Le Diko - en:onset in first decade after normal early development

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Le Diko - en:onset in first decade after normal early development

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en:onset in first decade after normal early development

Nom

Informations lexicales

Langue:anglais

Associations d'idées

1000

en:visceral multicentric involvement has a poorer prognosis than solitary lesions limited to the skin

•

en:one large 3-generation irish family has been reported (last curated october 2014)

•

en:focal or segmental onset in cranial-cervical area or upper limbs

•

en:incidence 1 in 15,000-28,000 births

•

en:incidence of 1 in 250,000 births

•

en:incidence ranges from 1 in 40,000 to 1 in 350,000 births

•

en:lymphedema occurs in childhood

•

en:most patients are female

•

en:onset around puberty

•

en:features of aho may rarely be observed, including brachydactyly, short metacarpals, and obesity (see 103580)

•

en:onset in early adulthood (average 26 years)

•

en:onset in infancy (first year of life)

•

en:onset of ataxia in early childhood

•

en:onset of cholestatic jaundice 2-4 weeks of age and resolved during childhood

•

en:onset of choroideremia in second to third decade

•

en:onset of clinical features around puberty

•

en:female carriers are unaffected or show neuropsychiatric features

•

en:fatal before age 2 years

•

en:onset usually in infancy or early childhood

•

en:allelic disorders with overlapping phenotypes include cmt1a (118220), hereditary neuropathy with liability to pressure palsies (hnpp, 162500), and dejerine-sottas syndrome (dss, 145900)

•

en:three sibs in one consanguineous iranian family have been described (last curated march 2015)

•

en:(3) intermediate

•

en:10% due to paternal deletion

•

en:adult onset (40 to 60 years old)

•

en:adult patients have heterogeneous symptoms including some with relapsing-remitting symptoms similar to multiple sclerosis

•

en:age on onset - adolescence

•

en:allelic to kid syndrome (148210), dfna3 (601544), dfnb1 (220290), vohwinkel syndrome (124500), keratoderma, palmoplantar with deafness (148350)

•

en:estimated incidence 1/20,000 - 1/40,000

•

en:ambulation usually not achieved

•

en:based on 2 families described with no mutations in the vitamin d receptor gene (vdr, 601769)

•

en:common in japan and other asian populations

•

en:deletion sizes range from 287kb to 4.4mb

•

en:die at birth or shortly after birth

•

en:discordant phenotype among monozygotic twins has been reported

•

en:early age of onset (mean age at diagnosis, 36 years) most patients have intraocular pressures within the normal range (21 mmhg or less)

•

en:onset of symptoms usually in adulthood

•

en:incidence 8/1,000 newborns

•

en:reported in individuals of french canadian origin

•

en:motor symptoms are variable

•

en:genetic heterogeneity (see 166600)

•

en:late-adult onset (range 50 to 80 years)

•

en:liver disease may be the most predominant finding

•

en:may be triggered by increased practice

•

en:mean age of death is 34 years

•

en:most individuals are wheelchair-bound or bedridden by adolescence

•

en:one family reported (last curated january 2014)

•

en:duane anomaly is not always present

•

en:onset before age 2 years

•

en:onset occurs earlier in males than females

•

en:onset of hypoglycemia and hyperinsulinism in the neonatal period

•

en:seizures may improve with age

•

en:similar to spondylometaphyseal dysplasia, type a4 (609052) but without anterior tonguing of vertebrae

•

en:survival to 20 years in severe form

•

en:symptoms precipitated by alcohol, caffeine, fatigue, stress, exertion, ovulation, menstruation

•

en:dysmorphic features may be subtle

•

en:see also autosomal dominant robinow syndrome (180700)

•

en:death usually occurs in the first weeks to months of life

•

en:date ultrasound:date:pt:^patient:qn

•

en:clinically classified into classic, atypical, and intermediate phenotypes

•

en:skin lesions worsen with heat or sun exposure

•

en:some patients never achieve sitting

•

en:successful treatment with oral isotretinoin

•

en:variable age of onset (childhood to young adulthood)

•

en:variable phenotype, some patients have very mild symptoms

•

en:some patients have only plantar surface involvement

•

en:communication board, non-electronic augmentative or alternative communication device

•

en:birth incidence approximately 5.1 per million live births

•

en:allelic to cowden disease (158350), which has a later age at onset

•

en:anticonvulsants are effective one family of thai origin has been reported (last curated march 2013)

•

en:based on 2 men from 2 unrelated consanguineous iranian families

•

en:based on one large consanguineous tunisian family with limited clinical information (last curated august 2015)

•

en:acquired form - presence of inhibiting autoantibody (igg) to vwf-cleaving protease

•

en:high occurrence of de novo mutations

•

en:improvement of abnormal muscle biopsy and cox deficiency

•

en:increased frequency in iraqi jews, selected arab populations, french gypsies, and natives of southern india

•

en:may be same disorder as autosomal recessive optic atrophy 3 (258501)

•

en:mecp2 mutations are those found in females with rett syndrome (312750)

•

en:onset 70-90 years

•

en:most individuals are asymptomatic

•

en:mutations have been identified in spanish families

•

en:onset 50 to 65 years

•

en:onset in childhood (range 1 to 12 years)

•

en:onset of deafness and diabetes in adulthood

•

en:fetal death may occur

•

en:onset of disease before 7 years of age

•

en:genetic heterogeneity, see cild1 (244400)

•

en:death may occur in early infancy

•

en:feeding difficulties in infancy

•

en:extreme phenotypic variability

•

en:evidence of prenatal fractures

•

en:early childhood onset (before age 5 years)

•

en:early-onset associated with more severe course and early death

•

en:dysmorphic features are variable

•

en:death usually due to respiratory failure

•

en:based on report of 2 patients with dhtkd1 mutation (last curated november 2014)

•

en:affected individuals may have more than 1 cardiac structural defect, or none at all

•

en:adult onset (range 19 to 48 years)

•

en:adult onset (20 to 50 years)

•

en:adults may lose ability to walk

•

en:78% due to chromosome 14 maternal uniparental disomy

•

en:rare autosomal dominant inheritance has been reported

•

en:onset of symptoms in fifth decade

•

en:rare disorder

•

en:skeletal and facial features are variable

•

en:liver functions return to normal after 3 to 4 months

•

en:variable expression

•

en:two affected sibs have been reported (last curated july 2014)

•

en:symptoms ameliorate with age

•

en:tumor suppressor genes

•

en:risk of sudden death due to cardiac arrhythmias

•

en:recurrence is possible

•

en:premature death may occur

•

en:onset usually in childhood

•

en:onset of symptoms less than one year

•

en:one family had normal cognitive and neurologic development

•

en:no features consistent with cystic fibrosis found in these patients

•

en:most patients require renal transplantation

•

en:marked intrafamilial variability of clinical features

•

en:see also autosomal dominant form (160800), which is less common and less severe

•

en:heterozygous female carriers may manifest symptoms

•

en:congenital onset or onset before 2 years (prelingual)

•

en:hearing loss is congenital and nonprogressive

•

en:two patients in one ashkenzai jewish family described (last curated june 2014)

•

en:two unrelated families have been reported (last curated september 2013)

•

en:childhood onset (average 4 to 6 years)

•

en:cold-induced sweating develops late in the first decade

•

en:usually favorable response to treatment

•

en:five reported patients, all boys (as of july 2009)

•

en:death before age 3 years

•

en:death within first year of life in 25%

•

en:elevated afp can be seen in other disorders

•

en:endocrine defects evolve over time

•

en:death at 13 to 30 years

•

en:a subset of patients are responsive to vitamin b12 therapy

•

en:presents at 2 to 3 months of age

•

en:prevalence of 1 in 40,000 to 1 in 80,000

•

en:rapidly progressive, but slower than creutzfeldt-jakob disease (123400)

•

en:small placenta

•

en:service comment 73:impression/interpretation of study:point in time:to be specified in another part of the message:nominal

•

en:term infants generally die within hours of birth, but 1 patient was kept alive for 13 months with ventilatory support

•

en:treatment with polyethylene glycol-modified bovine ada, bone marrow transplantation, and/or gene therapy

•

en:allelic to the more severe pantothenate kinase-associated neurodegeneration (nbia1, 234200)

•

en:one family reported (last curated may 2013)

•

en:onset of hyperuricemia or gout in young adulthood

•

en:four sibs from the old order mennonite community has been reported (last curated december 2015)

•

en:often unilateral involvement

•

en:neurologic signs are present in the neonatal period only

•

en:muscle contractions in infancy occur in response to tactile stimulation or crying

•

en:mean age at onset 66.8 years (range 47-77)

•

en:lack of treatment results in early death

•

en:high prevalence in japan

•

en:familial form

•

en:both autosomal dominant and autosomal recessive inheritance has been described

•

en:approximately 35% of patients die during the first 2 years of life

•

en:allelic to hydropic and prenatally lethal chondrodystrophy (215140)

•

en:based on report of 1 saudi arabian family (last curated february 2015)

•

en:based on report of 1 consanguineous pakistani family (last curated may 2015)

•

en:age of onset 30 to 60 years

•

en:behavioral problems including stubbornness and rage

•

en:onset in early infancy (2 to 3 months of age)

•

en:death may occur in childhood due to respiratory failure

•

en:zinc deficiency in breastfed offspring resolves after weaning

•

en:variable severity (in patients with hsan2d)

•

en:the presence of an hspa9 variant (dbsnp rs10117) in trans may be required for expression of the clinical phenotype (pseudodominant inheritance)

•

en:slow, progressive growth, then stable

•

en:risk of sudden death in childhood due to cardiac arrest

•

en:onset usually in first or second decades

•

en:onset of thrombosis by age 2 years

•

en:onset of symptoms 2-4 weeks of age

•

en:onset in the perinatal period

•

en:phenotypic variability has been described, with some patients exhibiting partial and others complete hypogonadotropic hypogonadism

•

en:onset in childhood (ages 1.5 to 7 years)

•

en:lysosomal storage vacuoles in trachea, liver, cartilage, and heart

•

en:onset early childhood

•

en:excessive postsurgical blood loss

•

en:favorable response to clonazepam

•

en:female carriers may have asymptomatic hypercalciuria or hypophosphatemia only

•

en:digenic form caused by heterozygous mutations in the gpr98 (602851.0010) and pdzd7 (612971.0002) genes

•

en:median age of diagnosis - 15 years

•

en:most cases are responsive to steroids

•

en:most frequently affected joints - hands (98%) and feet (88%)

•

en:one six-generation family from northern china has been reported (last curated august 2015)

•

en:onset between 10 and 20 years of age

•

en:onset in late twenties to thirties

•

en:incidence of 1 in 1.5 million births

•

en:most cases are caused by the factor v leiden mutation (r506q, 612309.0001)

•

en:one family has been reported (last curated june 2014)

•

en:one patient has been reported (last curated november 2013)

•

en:persistence of febrile seizures beyond age 6 years

•

en:onset usually in infancy or up to 2 years of age although later onset has been reported ('late-infantile')

•

en:patients with glaucoma have nonsense or truncating sbf2 mutations (607697.0002)

•

en:heterozygous deletion of the terminal band 22q13.3 including shank3 (606230)

•

en:phace is an acronym for posterior fossa brain malformation, large facial hemangiomas, arterial anomalies, cardiac anomalies and aortic coarctation, and eye abnormalities

•

en:progression of disease stops at a best-corrected visual acuity of 0.2 (20/100) to 0.1 (20/200)

•

en:recurrent bacterial infections with onset in the first or second year of life

•

en:hyperphagia and weight gain as well as immunologic abnormalities and hypogonadism can be reversed by exogenously administered recombinant leptin

•

en:95% of cases are sporadic

•

en:hearing loss may be stable or progressive

•

en:genetic heterogeneity (see mcc1 deficiency 210200)

•

en:genetic heterogeneity, see ags2 (610181), ags3 (610329), and ags4 (610333)

•

en:death in infancy in majority of patients

•

en:death in childhood may occur due to infection

•

en:chronic, relapsing condition

•

en:candidiasis is usually the first symptom

•

en:autosomal recessive inheritance in one family (see 603342.0010)

•

en:approximately half of cases are due to de novo deletions

•

en:allelic disorder to limb-girdle muscular dystrophy type 2b (lgmd2b, 253601)

•

en:adult onset (range 40 to 60 years)

•

en:about half of patients report vestibular symptoms

•

en:two pakistani families have been reported (last curated december 2012)

•

en:risk haplotype found in dutch families

•

en:allelic to noonan syndrome (163950)

•

en:variable abnormalities

•

en:one family reported (last curated june 2009)

•

en:waxing and waning cardiomyopathy (in some patients)

•

en:type iiia has both liver and muscle involvement

•

en:two unrelated families have been reported (last curated june 2014)

•

en:three affected sibs have been reported

•

en:affected females are infertile

•

en:some patients report cyclical changes in severity of symptoms

•

en:six patients have been reported (5/18/2011)

•

en:phenotypic overlap with wagr syndrome (194072), frasier syndrome (136680)

•

en:phenotype is due to hypomorphic nonmosaic mutation in the ebp gene

•

en:onset within first year of life

•

en:onset of optic atrophy in infancy or early childhood

•

en:one spanish family has been reported (last curated august 2015)

•

en:one patient had onset at birth and a more severe disorder resulting in death at a young age

•

en:surviving males are postzygotic mosaic for ebp mutations

•

en:neonatal onset of nephrotic syndrome

•

en:death usually in newborn period or infancy

•

en:neonatal death

•

en:allelic to waardenburg syndrome, type iia (193510)

•

en:cholinesterase inhibitors may be beneficial

•

en:death in childhood occurs without bone marrow transplantation

•

en:alternating hemiplegia of childhood (104290) is an allelic disorder with an overlapping phenotype

•

en:estimated prevalence of 1.6 in 1,000,000 individuals in the u.k.

•

en:incidence of 1 in 25,000 to 1 in 50,000 newborns

•

en:increased frequency among individuals of east asian descent

•

en:may be precipitated by minor illness (e.g., viral infection, fever)

•

en:milder manifestations in heterozygous females (broad face, downslanting palpebral fissures, and cleft palate)

•

en:mucocutaneous immunodeficiency syndrome may be prominent

•

en:prevalence in the finnish population of 5.8 per million

•

en:clinical variation

•

en:carcinomas tend to develop in mid or late adulthood

•

en:allelic to deafness, neurosensory, autosomal recessive 18 (602092)

•

en:affected females report aggravation of symptoms during menstrual periods and pregnancy, with alleviation after menopause

•

en:46,xx carriers are unaffected

•

en:variable age of onset (6 to 35 years)

•

en:severe epilepsy may lead to early death

•

en:see also antenatal bartter syndrome type 1 (601678) and bartter syndrome type 2 (241200)

•

en:prevalence of 1 in 150,000

•

en:lethal in utero or perinatal lethal

•

en:prevalence in slovenia is 1 in 43,000

•

en:presence of 4 major features or 3 major and 2 minor features establishes the diagnosis

•

en:onset of optic neuropathy is usually in early adulthood

•

en:multisystem decompensation in response to viral infection

•

en:mean age at onset for variant cjd is 29 years (before age 45 years)

•

en:majority of cases have bilateral involvement

•

en:later onset (late childhood to young adult) has been reported

•

en:increased sensitivity to valproic acid toxicity

•

en:classic lesch-nyhan, < 1.5% hypoxanthine phosphoribosyltransferase (hprt) activity

•

en:child often can sit unsupported but never ambulates

•

en:carrier females may present with postpartum hyperammonemia

•

en:disorder becomes apparent around age 2 years when patients begin to walk

•

en:coronary artery disease or myocardial infarction in fifth or sixth decade of life

•

en:may be induced by fever or hot bath

•

en:two unrelated families have been reported (last curated february 2015)

•

en:see also lethal neonatal (608836) and adult forms (255110)

•

en:prevalent in sweden

•

en:onset of night blindness varies among patients from early childhood to mid thirties

•

en:onset of hematologic or cns tumors in the first or second decades of life

•

en:occurs in 2-5 per 10,000 individuals

•

en:no peripheral signs of hypothyroidism

•

en:most patients die of renal failure in early adulthood

•

en:median life expectancy, 13.4 years

•

en:dermatitis resolves in offspring after zinc supplementation and/or weaning

•

en:incidence of 4 per million per year

•

en:good response to gaba-enhancing medications

•

en:genetic heterogeneity for phenotypically similar disorders with specific language impairment (sli1 606711, sli2 606712, sli3 607134)

•

en:four patients from 3 families have been reported (last curated january 2015)

•

en:five affected individuals in one consanguineous pakistani with itpr2 mutation has been described (last curated april 2015)

•

en:female to male ratio 8-13:1

•

en:female carriers may be mildly affected

•

en:females tend to have earlier onset

•

•

en:despite voluminous steatorrhea, patients' growth and overall state of health is good

•

en:highly variable intrafamilial expression

•

en:patients of brazilian origin have a pure cerebellar atrophy

•

en:one large family has been reported (as of 2008)

•

en:onset 3 months of age up to 5 years

•

en:onset often begins in childhood or adolescence

•

en:some patients do not achieve independent ambulation

•

en:rapidly progressive course

•

en:see also oca1b, or 'yellow albinism,' an allelic disorder with residual tyrosinase activity and some pigmentation

•

en:seizures easily controlled by medications

•

en:similar to infantile neuroaxonal dystrophy (inad, 256600)

•

en:normal at birth

•

en:one family with autosomal dominant inheritance has been reported and 1 family with autosomal recessive inheritance has been reported (last curated october 2014)

•

en:genetic heterogeneity (see 191100)

•

en:median age at diagnosis, 59 years

•

en:mean age at onset 27 years (range 9 to 42)

•

en:many cases due to de novo mutation

•

en:majority cases are sporadic

•

en:hearing loss and ocular findings are variable

•

en:frequency 1/100,000 - 1/130,000 live births

•

en:favorable response to lenalidomide treatment

•

en:deletions in naip gene (600355) found in 18% of smaii patients

•

en:cold temeratures exacerbate symptoms

•

en:a subset of patients improve with thiamine

•

en:two alpha-globin genes - 5-prime or alpha-2 and 3-prime or alpha-1

•

en:40 patients in 16 dominant kindreds reported (as of february 2012)

•

en:three males in 1 family have been reported (last curated august 2012)

•

en:allelic disorder to orofaciodigital syndrome 1 (ofd1, 311200)

•

en:mechanical ventilation may be required

•

en:allelic to infantile sialic acid storage disorder (269920)

•

en:variable features present

•

en:two families have been reported (last curated december 2013)

•

en:spasticity occurs before parkinsonism

•

en:rapidly progressive to persistent vegetative state or death

•

en:possible autosomal dominant form 165199 and x-linked form, cmtx5 311070

•

en:onset in early twenties

•

en:one patient showed improvement and was thriving at 46 months of age

•

en:one pakistani family has been reported (last curated october 2012)

•

en:not all patients have facial dysmorphism

•

en:ninety percent of cases are female

•

en:onset around age 2 years

•

en:mean age at onset 5 years

•

en:diarrhea-negative subtype (d-hus), or atypical hus, is more severe and often relapses

•

en:later onset with a milder phenotype may also occur

•

en:carrier frequency in finland 1/40

•

en:cataracts develop by second decade of life

•

en:death within 12 months

•

en:autosomal dominant inheritance has been reported

•

en:dramatic improvement with proper treatment

•

en:genetic anticipation associated with progressive telomere shortening

•

en:incidence is less than 1 in 70,000 births

•

en:incidence of 1 in 40,000 infants worldwide

•

en:favorable response to ephedrine treatment

•

en:onset of ataxia and neuropathy in early twenties

•

en:milder phenotype associated with aberrant function of a single domain of the zeb2 protein rather than complete haploinsufficiency of zeb2

•

en:normal ability to tolerate heat

•

en:normal development between episodes

•

en:onset in late childhood/adolescence (approximately 15 years)

•

en:prevalence of 19 in 1,000,000 in sweden

•

en:patients may present with autoimmune features or primary immunodeficiency

•

en:phenotypic overlap with thrombotic thrombocytopenic purpura (ttp, 274150)

•

en:recurrence of symptoms after cholecystectomy

•

en:see also simplex eb with pyloric atresia (612138)

•

en:intrafamilial phenotypic variability, ranging from bilateral to unilateral foot involvement to no split-foot malformation

•

en:majority of cases in manitoba indians, northeastern manitoba, canada

•

en:symptoms can be prevented by strict dietary restriction

•

en:increased susceptibility to malignant hyperthermia

•

en:incidence of all forms of cjd is 0.5 to 1.5 per million per year

•

en:incidence is estimated to be between 1 in 2,000 and 1 in 7,000 live births

•

en:hernia occurs in 22% of adults

•

en:genetic heterogeneity (see edm1 132400, edm3 600969, edm4 226900, edm5 607078)

•

en:genetic heterogeneity (see bfic2, 605751)

•

en:genetic heterogeneity (see, e.g., cmtdib 606482, cmtdid 607791)

•

en:death in utero (30%)

•

en:colchicine treatment is not effective

•

en:at birth, there is generalized red scaly skin

•

en:approximately 50db loss in adulthood

•

en:allelic to multiple synostoses syndrome 1 (186500), tarsal-carpal coalition syndrome (186570), and stapes ankylosis syndrome without symphalangism (184460)

•

en:affected females have apparently normal puberty but later develop secondary amenorrhea with anovulatory cycles

•

en:similar clinical phenotype to edsiii (130020)

•

en:wide clinical variability

•

en:usually fatal by age 5 years

•

en:major fluid shifts may occur in severe cases

•

en:sudden infantile death may occur

•

en:sudden death in affected males occurs in teens

•

en:some patients may be asymptomatic if diagnosed early and properly managed during metabolic crises

•

en:some patients may be asymptomatic

•

en:skin lesions are primarily trauma-induced but occasionally appear spontaneously

•

en:seizures become nearly continuous

•

en:rash, edema, and arthralgia may occur during crisis

•

en:plantar contractures become apparent with onset of ambulation

•

en:onset of symptoms usually between 12-15 years

•

en:no abdominal symptoms or neurologic symptoms in harderoporphyria

•

en:nonprogressive hepatic form is less frequent

•

en:most patients lose ambulation 2 years after onset

•

en:variable severity, ranging from 'typical' to 'severe' disease

•

en:highly variable degree of bone fragility, even among patients carrying the same mutation

•

en:acute episodes decrease with age and disappear

•

en:genetic heterogeneity of waardenburg syndrome type 2

•

en:very slow progression

•

en:variable phenotype (myotonia may or may not be present)

•

en:x-linked mental retardation-hypotonic facies syndrome (309580) is an allelic disorder without alpha-thalassemia

•

en:about 25% of cases due to new mutations

•

en:adult onset may occur

•

en:age of onset 17 to 68 years (mean 39)

•

en:allelic disorder to nieman-pick disease type b (607616)

•

en:basal cell neoplasms develop after second decade

•

en:carrier females have normal funduscopic examinations and normal waveforms on electroretinography.

•

en:childhood or young adult onset

•

en:progressive disease

•

en:onset in second to third decades (postlingual)

•

en:onset of malignancy can occur throughout life

•

en:phenotypic overlap with xeroderma pigmentosum (see, e.g., 278700)

•

en:poor response to g-csf treatment

•

en:age at first pregnancy:time:point in time:^patient:quantitative

•

en:relatively mild course

•

en:retinitis punctata albescens and macular degeneration starting in late childhood to early teens

•

en:symptoms aggravated by fatigue, exertion, sleep deprivation, emotion, hunger

•

en:three unrelated girls have been reported (as of july 2011)

•

en:variable ictal semiology

•

en:only 1 family had ultrastructural cellular findings of neuronal ceroid lipofuscinosis

•

en:onset by 7-8 years of age progressing to moderate-to-severe loss of mid and high frequencies during adulthood in a consanguineous iranian family

•

en:genetic heterogeneity (may be caused by mutation in nuclear-encoded or mitochondrial-encoded genes)

•

en:no history of familial hypercholesterolemia

•

en:no congenital form

•

en:most common cancer in men aged 15-40 years

•

en:milder disease with a more favorable prognosis than cmd1u (613694) due to psen1 mutations

•

en:lymphedema that presents at puberty is called meige disease (153200)

•

en:genetic heterogeneity (see 266900 for summary)

•

en:for autosomal recessive forms, see cmt2b1 605588 and cmt2b2 605589

•

en:female to male ratio 5:1

•

en:de novo mutation identified in some patients

•

en:clinical variability seen in waardenburg syndrome type 1

•

en:caused by a defect in bile acid transport

•

en:antenatal onset

•

en:allelic to giant platelet syndrome (231200) and bernard-soulier syndrome, benign, autosomal dominant (153670)

•

en:20% die before age one (usually secondary to renal or laryngeal defects)

•

en:(4) thiamine-responsive form

•

en:maternal anticipation bias

•

en:allelic disorder to ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3 (eec3, 604292)

•

en:one patient has been reported (last curated april 2014)

•

en:axial skeleton most commonly affected

•

en:variable expressivity

•

en:ullrich congenital muscular dystrophy (254090) is an allelic disorder with autosomal recessive inheritance and a more severe phenotype

•

en:three patients have been reported (as of november 2010)

•

en:the majority of female heterozygotes reveal ophthalmologic abnormalities - multiple, micropunctate, gray lens opacities or single, dense posterior cataract

•

en:skin peeling exacerbated by heat, friction, and humidity

•

en:rare spontaneous improvement occurs (8%)

•

en:prevalence of 0.6 to 10 per 100,000 individuals

•

en:precipitated by febrile illness and fasting

•

en:poor response to l-dopa

•

en:partial factor viii deficiency in heterozygous carriers

•

en:original phenotype description based on patients from la reunion island in the indian ocean off the east coast of africa where the incidence is 1/1,500 births

•

en:onset second decade of life

•

en:peo is not always present

•

en:one family has been reported (last curated february 2014)

•

en:high frequency among french-canadians

•

en:a nonspecific marker of somatic mosaicism

•

en:bimodal age of onset

•

en:one 9-generation family and 1 isolated patient described (last curated march 2014)

•

en:earlier onset associated with increased severity

•

en:for a similar phenotype with genital anomalies and disordered steroidogenesis see por deficiency (201750)

•

en:fracture frequency increases after menopause and in men ages 60-80

•

en:deafness is presenting symptom

•

en:increased spontaneous abortions in carrier mothers

•

en:mother who carries the mutation is clinically unaffected

•

en:normal alleles contain up to 30 repeats

•

en:occasionally low-dose insulin required

•

en:mean age at onset of cerebellar ataxia is 52.8 years

•

en:variable age at onset of symptoms, from second to fifth decade of life

•

en:some individuals may be clinically asymptomatic

•

en:variable age of onset (range 13 to 67 years, median 48 years)

•

en:variable age of onset (childhood to adult)

•

en:variable age of onset, ranging from 11 to 50 years

•

en:types of psoriasis include - plaque, guttate, erythrodermic, pustular

•

en:variable age at onset of neuropathy (range first to sixth decade)

•

en:variable age at onset (range first to fourth decade)

•

en:variable age at onset (range childhood to adult)

•

en:variable age at onset (childhood to adulthood)

•

en:type i b5r endemic in athabascan indians, navajo indians, and yakutsk natives of siberia

•

en:variable distribution, may be focal, segmental, multifocal, or generalized

•

en:variable cardiac defects

•

en:50% of cases represent new mutations associated with advanced paternal age

•

en:variable frequency and severity

•

en:performing laboratory medical director:id:pt:facility:nom

•

en:about 10% of patients have a severe early onset in the first months of life

•

en:two unrelated families have been reported (last curated february 2016)

•

en:service comment 53:impression/interpretation of study:point in time:to be specified in another part of the message:nominal

•

en:service comment 45:impression/interpretation of study:point in time:to be specified in another part of the message:nominal

•

en:service comment 41:impression/interpretation of study:point in time:to be specified in another part of the message:nominal

•

en:service comment 15:impression/interpretation of study:point in time:to be specified in another part of the message:nominal

•

en:last name:pn:pt:^guardian or legally authorized representative:nom

•

en:variable neurologic phenotype

•

en:date of autopsy:date:pt:^patient:qn

•

en:wide range of onset from childhood to adult (10 to 50 years)

•

en:variable severity between patients and between eyes (in some patients)

•

en:variable severity (mild symptoms to severe handicap)

•

en:variable phenotype within and between oi5 families

•

en:variable number of nails involved

•

en:two unrelated families have been reported (last curated october 2015)

•

en:three fetuses from 1 family have been reported (last curated august 2015)

•

en:two unrelated consanguineous families have been reported (last curated june 2015)

•

en:symptoms usually last 30-60 minutes

•

en:adult is an acronym for acro-dermato-ungual-lacrimal-tooth

•

en:some patients become wheelchair-bound in second decade

•

en:some patients can attend special school

•

en:some patients have additional neurologic involvement

•

en:some patients may show normal early development before seizure onset

•

en:some patients show delayed development from birth

•

en:some patients show onset in childhood

•

en:some patients with hypertrophic cardiomyopathy progress to a dilated phenotype with severe heart failure

•

en:some tumors may be microsatellite instable and carry somatic mutations in msh mismatch repair genes

•

en:spontaneously resolves by 5 to 6 months of age

•

en:spontaneous reversal of gnrh deficiency may occur in some patients

•

en:sudden death may occur

•

en:symptoms precipitated by sudden movements

•

en:symptoms usually appear in adulthood

•

en:the familial form of pityriasis rubra pilaris is generally resistant to treatment and persists

•

en:two unrelated boys have been reported (last curated october 2015)

•

en:two families have been reported (as of may 2011)

•

en:two patients required liver transplantation

•

en:two patients from spain have been reported (as of january 2012)

•

en:two pakistani families with a homozygous crybb3 mutation have been reported (last curated august 2014)

•

en:two mother and child pairs have been reported (last curated july 2015)

•

en:two main phenotypes, severe and mild

•

en:two fetuses from terminated pregnancies in 1 family have been reported (last curated march 2015)

•

en:two clinical presentations - solely neurologic form and a neurologic-multivisceral form

•

en:the lower the s-ado:saicar ratio, the more severe the phenotype

•

en:two chinese sisters and one chinese woman have been described (last curated april 2014)

•

en:trps2 (langer-giedion syndrome, 150230) is a microdeletion syndrome involving deletions of both trps1 (190350) and ext1 (608177) genes

•

en:three unrelated families have been reported (as of june 2011)

•

en:three patients (2 related) reported (last curated march 2013)

•

en:three families have been reported (last curated november 2014)

•

en:three families have been reported (last curated april 2011)

•

en:acral form of skin peeling limited to hands and feet (609796)

•

en:based on report of 2 sibs in 2008

•

en:adult onset (range 34 to 66 years)

•

en:by age 50 years, affected family members have a 50mm hg increase in mean arterial blood pressure compared to unaffected relatives

•

en:based on 1 report of monozygotic twins (last curated may 2014)

•

en:based on a report of 2 unrelated saudi patients (last curated september 2015)

•

en:based on one large north american family (last curated august 2015)

•

en:based on report of 1 family (last curated february 2015)

•

en:based on report of 2 probands (last curated october 2014)

•

en:some affected family members are asymptomatic

•

en:based on report of 2 turkish sisters (last curated july 2015)

•

en:based on review of 53 individuals aged 1.2-21.25 years and 11 affected adults (last curated february 2016)

•

en:benign condition

•

en:blistering frequency may decrease with age

•

en:blistering tends to improve with age

•

en:both contiguous gene syndromes show similar features such as cystinuria, growth impairment, and hypotonia

•

en:both mutations occurred de novo

•

en:breech position

•

en:candidiasis is restricted to nails of hands and feet

•

en:average onset 6 months (range 3-9)

•

en:cardiac arrest and sudden death may occur, even in early childhood

•

en:cardiac involvement occurs between 5 and 12 years

•

en:carrier frequency 1:200,000 in france

•

en:caused by heterozygous germline mutation and second-hit somatic mutation

•

en:childhood onset may occur

•

en:clinical and biochemical abnormalities improve with age

•

en:clinical manifestation ranges from mild, transient hypertension to hellp syndrome (hemolysis, elevated liver enzymes, and low platelets)

•

en:clinical presentation varies

•

en:complete penetrance

•

en:complete recovery upon treatment of hyperthyroidism

•

en:contiguous gene deletion syndrome (in most patients)

•

en:continuing ovulation and implantation after initiation of another pregnancy

•

en:course characterized by repeated relapses precipitated by excessive protein intake, intercurrent infection, or constipation

•

en:death due to respiratory failure or infection

•

en:based on 1 family (last curated september 2012)

•

en:average age at onset 66 years although earlier onset may occur

•

en:affected, mild - 50-150 repeats

•

en:allelic disorder to juvenile primary lateral sclerosis (plsj, 606353)

•

en:affected girls have de novo heterozygous mutations consistent with x-linked dominant inheritance

•

en:affected individuals are highly prone to burn-related injuries

•

en:affected males are somatic mosaic for mutations

•

en:age of onset between 6 and 45 years of age

•

en:age of onset from 10 to 40 years

•

en:aggravated by physical activity

•

en:allelic disorders with overlapping phenotypes include dss, congenital hypomyelination (chn, 605253), and some forms of axonal cmt2 (see 607677)

•

en:allelic disorder to androgen insensitivity syndrome (ais, 300068)

•

en:allelic disorder to autosomal dominant form (129490)

•

en:allelic disorder to autosomal recessive charcot-marie-tooth disease type 4c (601596)

•

en:allelic disorder to child syndrome (308050)

•

en:allelic disorder to distal spinal muscular atrophy type v (dsmav, 600794), but distinguished by more severe distal sensory involvement

•

en:allelic disorder to hyperkalemic periodic paralysis (hypp, 170500)

•

en:allelic disorder to juvenile amyotrophic lateral sclerosis 2 (als2, 205100)

•

en:allelic disorder to northern epilepsy (610003)

•

en:autosomal recessive inheritance has been reported in 1 family

•

en:approximately 70-80% of cases are de novo and sporadic

•

en:autosomal recessive and dominant pedigrees described

•

en:autonomic symptoms occur with headaches

•

en:attacks more common in women

•

en:asymptomatic carriers of a pericentric chromosome 8 inversion, inv(8), have a 6.2% risk of having an affected child with an unbalanced recombinant chromosome 8, rec(8).

•

en:associated specifically with the gba d409h mutation (606463.0006)

•

en:approximately half of the mutations are de novo

•

en:ambulation is usually maintained during adulthood

•

en:allelic to hyperimmunoglobulinemia d syndrome (hids, 260920)

•

en:all reported cases have occurred de novo

•

en:all cases have been stillborn or immediate neonatal death

•

en:allelic with dentinogenesis imperfecta 1 (125490) and dentin dysplasia, type ii (125420)

•

en:allelic to rett syndrome (312750)

•

en:allelic to papillon-lefevre syndrome (245000) and juvenile periodontitis (170650)

•

en:allelic to mucopolysaccharidosis ivb

•

en:some carrier females have mild features

•

en:phenotypic overlap with pkan neuroaxonal dystrophy (nbia1, 234200)

•

en:skin neoplasia may appear later in life

•

en:onset between 7 and 27 years of age

•

en:occurs most often between 5 and 15 years of age

•

en:one chinese family with a confirmed mutation has been reported (last curated august 2015)

•

en:one consanguineous saudi arabian family has been reported (last curated august 2014)

•

en:one family has been reported (last curated september 2015)

•

en:one family with 3 affected girls has been reported (as of october 2011)

•

en:one family with 4 affected sibs has been reported (as of april 2012)

•

en:one family with late-adult onset and cerebellar ataxia has been reported (last curated february 2015)

•

en:one french family has been reported (last curated july 2014)

•

en:one patient has been described (last curated january 2016)

•

en:one patient reported (last curated november 2013)

•

en:one patient was less severely affected

•

en:onset 30-40 years of age

•

en:onset at 6-9 months

•

en:onset between 1-3 years

•

en:onset between ages 5 and 15 years

•

en:occurs in about 1 in 10,000 births

•

en:onset between the second and sixth decades

•

en:onset by 1 year of age

•

en:onset day of life 1-10 in infants fed lactose-containing milk

•

en:onset early in first decade

•

en:onset in childhood, but most noticeable in mid-teens and early adulthood

•

en:onset in childhood (range birth to 10 years)

•

en:onset in childhood or adolescence (mean age of 6 years, range 1 to 18)

•

en:onset in first decade of life

•

en:onset in infancy or childhood

•

en:onset in mid to late childhood

•

en:onset in second to fifth decade

•

en:onset in teens to 20's

•

en:onset in the first decade (range birth to 8 years)

•

en:onset is usually in childhood or adolescence (2 to 18 years)

•

en:occurs in full-term newborns

•

en:occurs at age 20-50 years

•

en:onset of dementia in the thirties or forties

•

en:most common inherited ataxia

•

en:death in utero or as neonate

•

en:many cases are asymptomatic

•

en:marked phenotypic variability

•

en:may be fatal in infancy

•

en:may progress to other body regions after many years

•

en:mean age at onset is 13 years (range 6 to 43)

•

en:mean age of diagnosis 40 years

•

en:mean age of onset, 5 years

•

en:median age at onset 23 years

•

en:median age of onset of nail dystrophy - 7 years (range 1-6 years)

•

en:meiotic origin >95% maternal, mostly meiosis i

•

en:mental retardation likely secondary to neonatal hypoxia

•

en:more common in ashkenazi jews

•

en:more severe in males than in females

•

en:most common mutation is leu276ile (606596.0004)

•

en:no mutations reported in la reunion island patients (last curated august 2014)

•

en:most patients die in the first months or years of life

•

en:most patients have involvement of all nails, with more severe changes in the nails of the thumbs and great toes

•

en:most severe type of von willebrand disease

•

en:natural aversion to carbohydrates

•

en:neonatal death secondary to pulmonary insufficiency

•

en:neurologic features are variable and not progressive

•

en:neurologic signs may not be present

•

en:newborn period is critical for survival

•

en:nonprogressive

•

en:normal development until onset of seizures

•

en:not all patients have dysmorphic facial features

•

en:not responsive to biotin treatment

•

en:nova scotian variant (type d) is considered a genetic isolate of npc1 and is associated with a mutation in the npc1 gene (607623.0004)

•

en:no extraocular findings

•

en:onset may also occur in early infancy, adolescence, or adulthood

•

en:onset of disease after fourth decade of life

•

en:significant phenotypic variability

•

en:see also dent disease 2 (300555)

•

en:recurrent febrile crises with lymphadenopathy, hepatosplenomegaly, vomiting, and diarrhea

•

en:reduced fertility

•

en:reduced penetrance (about 60%)

•

en:relapsing-remitting course

•

en:relatives with multiple small congenital pigmented nevi

•

en:renal anomalies are not always present

•

en:reported in individuals of sephardic jewish ancestry

•

en:responsive to thiazide diuretics

•

en:risk of sudden death with exertion

•

en:see 218400 for an autosomal recessive form caused by mutation in gja1 (121014.0021)

•

en:see also autosomal dominant form (176860)

•

en:see also autosomal dominant peoa1 (157640)

•

en:see also chromosome 2q32-q33 deletion syndrome (612313)

•

en:see also cmtx1 (302800) and cmtx2 (302801)

•

en:see also ecyt2 (263400) and ecyt3 (609820)

•

en:rare adult cases reported

•

en:see also facial hemihypertrophy (133900)

•

en:see also muckle-wells syndrome (191900), an allelic disorder with overlapping features

•

en:see also optic atrophy with deafness (125250), an allelic disorder

•

en:see also park6 (605909), park7 (606324), and park9 (606693) for autosomal recessive disorders with overlapping phenotypes

•

en:see also pgl1 (168000)

•

en:see also pseudohypoparathyroidism type ia (103580)

•

en:see recessive form optb4 (611490)

•

en:seizures may remit in adolescence

•

en:seizure onset in first months or years of life

•

en:sensorineural hearing loss may be presenting feature

•

en:serum triglycerides decrease with age

•

en:seven patients reported (as of march 2011)

•

en:severe infantile form presents before 6 months

•

en:sexual infantilism

•

en:rare patients with homozygous null mutations have most severe disease

•

en:rapidly progressive neonatal onset with early death

•

en:onset of disease in fourth or fifth decade of life

•

en:patients develop acute symptoms under physiologic stress due to illness

•

en:onset of optic atrophy in first decade

•

en:onset of symptoms in childhood

•

en:onset of symptoms in second to fifth decades of life

•

en:onset of symptoms in the fourth to sixth decade of life

•

en:onset of visual loss in childhood (around age 5 years)

•

en:onset of visual loss in the first or second decades

•

en:onset usually after viral-like infection

•

en:onset usually at 2 to 6 months of age

•

en:onset usually in childhood (range infancy to late childhood)

•

en:onset usually in second decade of life, although earlier and later onset have been reported

•

en:pain in lower limb

•

en:pathogenic alleles contain 52 to 86 repeats

•

en:patients are susceptible to sepsis and dehydration

•

en:patients between 30 and 60 years have discomfort with prolonged standing

•

en:patients do not have clinical hypothyroidism

•

en:rapidly progressive disorder

•

en:phenotypic variability, intrafamilial

•

en:prevalence 1-2% in northern european populations

•

en:prenatal or neonatal onset

•

en:premature aging syndrome

•

en:predominantly occurs in young males with high rate of atopic disease

•

en:possible increase of aneuploidy in offspring

•

en:pigment does not develop with age

•

en:phenotypically mild form of joubert syndrome

•

en:patients exhibit no signs of ocular or cutaneous albinism

•

en:perinatal lethal

•

en:peak age of onset in second decade

•

en:patients with total c4 deficiency are homozygous for double null c4 haplotype

•

en:patients with mutation in the nhlrc1 gene have slightly longer survival

•

en:patients may have head and neck paragangliomas only, adrenal or extraadrenal pheochromocytomas only, or both

•

en:patients in whom echocardiography has been performed have a normal heart, heart valves, and aortic root

•

en:death in infancy or early childhood

•

en:sporadic or acquired pct precipitated by alcohol, estrogens, iron, and polychlorinated cyclic hydrocarbons

•

en:death in utero or in early infancy is common

•

en:relationship of rare neuropsychiatric signs to histidinemia is unclear

•

en:poor gonadotropin response to gonadotropin releasing hormone (gnrh)

•

en:positive response to treatment with growth hormone

•

en:possible benefit from treatment with 3,4-diaminopyridine and salbutamol

•

en:precipitated by general anesthesia

•

en:prenatal onset

•

en:presentation in children - diarrhea, constipation (rarely), short stature, pubertal delay, rickets, iron and folate deficiency with anemia

•

en:prevalence estimated at 1 in 50,000

•

en:prevalence of 1 in 50,000-70,000 live births

•

en:prevalence of 2-7% in english-speaking preschool children

•

en:prodromal symptoms include nasal congestion, dry throat, severe fatigue, vertigo, and headache

•

en:progressive clinical course with onset in childhood

•

en:progressive disorder, with older patients exhibiting more severe symptoms

•

en:progressive renal disorder

•

en:recessive inheritance has been reported

•

en:reported in 2 sibs (february 1991)

•

en:perinatal lethality

•

en:response to zinc supplementation

•

en:reticulate hyperpigmentation onset birth - 2 years

•

en:risk of thromboembolic stroke

•

en:see (277600) for a phenotypically similar autosomal recessive form

•

en:see also autosomal dominant giant axonal neuropathy (610100)

•

en:see also autosomal dominant lutheran-null phenotype (111150)

•

en:see also cmtx1 (302800) and cmt3x (302802)

•

en:see also da2b (601680), which is an allelic disorder

•

en:see also dominant deb (131750), an allelic disorder with a similar phenotype

•

en:see also glut1ds2 (612126), an allelic disorder with a less severe phenotype

•

en:see also pfm3 on chromosome 4q21-q23 (609566)

•

en:see also two x-linked forms 300633 and 300758

•

en:see also x-linked edmd (310300)

•

en:see also x-linked nephrocalcinosis (310468), x-linked recessive hypophosphatemic rickets (300554), and low-molecular-weight proteinuria with nephrocalcinosis (308990)

•

en:phenotypic variability

•

en:penetrance estimated to be 80%

•

en:seizures and cognitive involvement are variable findings

•

en:onset of symptoms at 2-4 months

•

en:onset in early childhood after initial normal development

•

en:onset in first decade of life affecting first higher frequencies, then middle to lower frequencies with age

•

en:onset in infancy (1-2 years)

•

en:onset in infancy or childhood (range 1 to 13 years)

•

en:onset in late-childhood to early adulthood (12 to 20 years)

•

en:onset in second decade of life progresses from mild to profound hearing loss

•

en:onset in the fourth to sixth decades (mean 40 years)

•

en:onset of acanthosis nigricans correlates with onset of diabetes

•

en:onset of gaze palsy at birth

•

en:onset of seizures in infancy

•

en:onset of seizures in later childhood (5 to 10 years)

•

en:onset of spasticity by age 2 years

•

en:onset of spastic paraplegia in first year of life

•

en:onset of symptoms after age 5

•

en:onset of symptoms in second decade of life

•

en:patient b presented with asymptomatic increased serum creatine kinase and no clinical muscle symptoms

•

en:onset of symptoms in third to fourth decade of life

•

en:onset ranges from childhood to young adulthood

•

en:onset soon after birth or within the first year of life

•

en:onset usually associated with febrile illness

•

en:onset usually by age 2 years

•

en:onset usually in childhood (infancy to teens)

•

en:onset usually in childhood (range 6 months to 16 years)

•

en:onset usually in the first decade (range 0.8 to 5 years)

•

en:partially responsive to laser treatment

•

en:patients are often asymptomatic

•

en:patients do not exhibit skin pigmentation changes

•

en:patients have normal pituitary function

•

en:patients have severe anemia requiring regular transfusions for normal activity

•

en:patients with contiguous gene deletion of 8q24 have more severe features

•

en:see pkd1 (601313) due to mutation in polycystin 1 (601313), pkd2 (173910) due to mutation in polycystin 2 (173910), and pkd3 (600666)

•

en:seizures are followed by drowsiness in most cases

•

en:onset in childhood (5 to 10 years)

•

en:two unrelated patients with slightly different phenotypes have been reported (last curated august 2013)

•

en:treatment with vitamin d and phosphate is effective

•

en:two families each with two affected children have been reported (last curated april 2015)

•

en:two families of french-canadian origin have been reported (last curated december 2012)

•

en:two fetuses have been reported (as of august 2011)

•

en:two of 3 patients became wheelchair-bound

•

en:two pakistani families reported (last curated july 2014)

•

en:two patients have been reported (as of august 2011)

•

en:two patients with heterozygous prickle1 mutations and limited clinical and familial details have been reported (last curated january 2015)

•

en:two unrelated chinese families have been reported (last curated november 2013)

•

en:two unrelated consanguineous families have been reported (last curated march 2015)

•

en:two unrelated patients had multiple congenital anomalies and died in early infancy

•

en:two unrelated patients have been reported (last curated april 2013)

•

en:two unrelated patients have been reported (last curated december 2012)

•

en:two unrelated patients have been reported (last curated july 2015)

•

en:type 2n shows autosomal recessive inheritance

•

en:treatment with riboflavin has been helpful in some patients

•

en:type ii sialidosis - severe disease, dysmorphic features, variable onset (congenital or hydropic (in utero), infantile (1-12 months), juvenile (2-20 years))

•

en:upper urinary tract usually normal

•

en:usually fatal in first 2 decades

•

en:usually occurs in young adulthood

•

en:usually sporadic

•

en:variable age at onset, range from infancy to adulthood

•

en:variable age at onset, ranging from 18 months to 27 years

•

en:variable age at onset (childhood to age 50)

•

en:variable clinical features

•

en:variable clinical presentation that may change with age

•

en:variable disease severity

•

en:variable frequency (daily to monthly)

•

en:variable phenotypic expression

•

en:variable severity, ranging from central severe to peripheral to transient

•

en:treatment with sulfonylurea can be effective

•

en:treatment with hematopoietic stem cell transplant if diagnosed at < 24 months of age

•

en:seizures are sensitive to hyperventilation

•

en:some patients have asymptomatic hypocalcemia

•

en:seizures occur in absence of intracranial infection or defined pathologic or traumatic cause

•

en:seizure severity and frequency tend to improve with age

•

en:several forms of autosomal recessive spastic paraplegia (see 270800)

•

en:severity of phenotype is not related to residual enzyme activity

•

en:short stepped shuffling gait

•

en:skin appears normal at birth, with development of generalized ichthyosis in childhood

•

en:skin manifestations are more severe and of later onset than papillon-lefevre syndrome

•

en:somatic or germline mosaicism may occur

•

en:some features are variable, even within families

•

en:some heterozygous carriers exhibit accelerated age-related hearing loss

•

en:some patients are clinically unaffected.

•

en:some patients born in consanguineous families may carry homozygous mutations, but the phenotype does not appear to be more severe

•

en:some patients do not have bone disease

•

en:some patients have an attenuated phenotype

•

en:some patients may become wheelchair-bound

•

en:treatment with enzyme replacement therapy

•

en:symptoms show insidious onset in the late first through third decades

•

en:three unrelated probands have been reported (last curated january 2016)

•

en:three distinct clinical forms - endemic (equatorial africa), sporadic, and immunodeficiency-associated (e.g., hiv infection)

•

en:those with intermediate repeat expansions show reduced penetrance

•

en:telangiectasia become evident between the second and eighth year of life

•

en:systemic iron overload due to ineffective erythropoiesis

•

en:symptoms usually resolve without treatment

•

en:symptoms often improve gradually with age

•

en:some patients may develop concurrent failure to thrive and dyslipidemia

•

en:symptoms are not relieved by alcohol

•

en:symptomatic if > 200 repeats

•

en:survival to advanced age

•

en:stickler syndrome (108300) and marshall syndrome share several characteristics such as midface hypoplasia, high myopia, and sensorineural hearing loss

•

en:sporadic occurrence

•

en:some patients with onset of severe disease in infancy are diagnosed with leber congenital amaurosis, whereas other patients with childhood onset of less severe retinal dystrophy are diagnosed with retinitis pigmentosa

•

en:onset in childhood with exacerbation during puberty

•

en:onset in adolescence or adulthood has been reported

•

en:death usually in first year of life

•

en:incidence 2-5% of north american children

•

en:genetic heterogeneity (see peoa2 609283, peoa3 609286, and peoa4 610131)

•

en:good response to clonazepam

•

en:hearing loss progresses to profound deafness

•

en:hid (hystrix-like ichthyosis with deafness, 602540) is identical to kid at the molecular level

•

en:highly variable clinical and immunologic phenotype

•

en:highly variable frequency and duration of episodes

•

en:highly variable organ involvement and severity

•

en:highly variable phenotype including fluctuating phenotype ('fluctuans') or severe phenotype ('permanens')

•

en:hla class ii alleles specify ketosis-prone diabetes (kpd) subgroup

•

en:homozygotes have more severe disease with earlier onset of thrombosis

•

en:however, neonatal seizures, severe mental retardation, distinct dysmorphic features, and mitochondrial dysfunction are unique to 2p21 deletion syndrome (2p21del)

•

en:hypothyroidism is less severe in individuals with high dietary iodine intake

•

en:immunodeficiency is progressive

•

en:inborn error of the pyrimidine degradation pathway

•

en:incidence in japan is 1 in 57,000

•

en:genetic heterogeneity (see 606215)

•

en:incidence in united states of 1 in 55,000

•

en:incidence of 1% in yarmouth county, nova scotia

•

en:incidence of 1 in 100,000

•

en:incidence of 1 in 276,000 in the netherlands

•

en:incidence of 1 in 3,900 births among jewish persons

•

en:increased frequency among french-canadians from the charlevoix-saguenay-lac saint jean area of quebec (carrier rate 1 in 26)

•

en:increased frequency in ashkenazi jewish population (1/100 are carriers)

•

en:increased frequency in finland

•

en:increased incidence in asian countries (e.g., 1.46 per 10,000 live births in taiwan)

•

en:increased male to female ratio (7.5:1)

•

en:increased rate of miscarriage in affected individuals

•

en:intermediate: onset in first decade with slow progression or onset in second decade with rapid progression

•

en:juvenile rigid early-onset form more often paternally inherited

•

en:laryngeal edema can result in asphyxiation

•

en:genetic heterogeneity (see etl2, 608096)

•

en:genetic heterogeneity (see 604559)

•

en:later onset associated with milder severity has been reported

•

en:episodes triggered by fasting, illness, fever

•

en:decreased bilirubin concentration with phenobarbital administration

•

en:decreased life expectancy

•

en:development of afebrile seizures later in childhood

•

en:diabetes and anemia respond to high doses of thiamine supplementation

•

en:disease shows slow progression

•

•

•

en:early death from respiratory failure may occur

•

en:early death occurs in affected infants (days to months after disease onset)

•

en:early death often occurs from cardiac failure or infection

•

en:echocardiogram and ophthalmologic examination normal

•

en:eight unrelated patients have been reported (as of september 2011)

•

en:environmental triggers - cold and wet exposure

•

en:episodes last 1 to 2 days

•

en:facial palsy often transient in infancy

•

en:genetic heterogeneity (see 304800)

•

en:fatal in the neonatal period (in some patients)

•

en:favorable response to alcohol

•

en:females are more often affected

•

en:female carriers may be affected

•

en:female mutation carriers are less severely affected than male mutation carriers

•

•

en:five unrelated patients have been reported (last curated july 2015)

•

en:four unrelated families have been reported (last curated february 2015)

•

en:four unrelated patients have been reported (last curated august 2014)

•

en:frequency and severity of seizures tends to decrease with age

•

en:frequently occurs in navajo children, especially in western reservations

•

en:frequent new mutations (~86%) and/or gonadal mosaicism in tsc1

•

en:genetic heterogeneity, see also pfic2 (601847), pfic3 (602347)

•

en:genetic heterogeneity (ccm2 603284, ccm3 603285)

•

en:late-adult onset has been reported

•

en:life-threatening infections

•

en:onset between 7 and 18 years

•

en:one canadian mennonite family has been reported (last curated november 2012)

•

en:no abnormalities of skin, hair, teeth, or bones

•

en:no consistent disease phenotype

•

en:no dysmorphic features

•

en:no male-to-male transmission

•

en:no neurologic sequelae

•

en:no skeletal abnormalities in odontohypophosphatasia

•

en:observed in individuals of bulgarian roma bowlmaker ethnic group

•

en:occurs in at least 1 in 55,000 male births (that figure may not include milder variants)

•

en:occurs in the absence of trauma

•

en:occurs most often in developing countries in tropical regions

•

en:often diagnosed between ages 3-4 months

•

en:often fatal in utero

•

en:one 5-generation chinese family reported (last curated november 2014)

•

en:one brazilian family with 12 affected individuals reported (last curated february 2014)

•

en:one chinese family has been reported (as of august 2011)

•

en:nonspecific subtle dysmorphic facial features may be present

•

en:one consanguineous arab family has been reported (last curated april 2015)

•

en:one consanguineous pakistani reported (last curated july 2015)

•

en:one family has been reported (last curated april 2015)

•

en:one family has been reported (last curated january 2010)

•

en:one family has been reported (last curated january 2014)

•

en:one family has been reported (last curated september 2014)

•

en:one family with autosomal dominant inheritance had only progressive bone marrow failure

•

en:one korean family has been reported (as of november 2011)

•

en:one large consanguineous kindred of israeli muslim descent has been reported (last curated may 2015)

•

en:one likely consanguineous turkish family has been reported (last curated january 2015)

•

en:one patient reported with col3a1 mutation (120180.0020)

•

en:one turkish girl has been reported (last curated april 2013)

•

en:only some patients showed neurologic involvement

•

en:onset at 6-36 hours of life

•

en:normal alleles contain 15 to 50 repeats

•

en:new skin lesions stop appearing before adolescence

•

en:live born infants die within few hours of birth

•

en:mild phenotype onset - 11-18 months

•

en:loss of ambulation

•

en:majority die in neonatal period secondary to respiratory insufficiency

•

en:male to female ratio 4:1

•

en:male to female ratio is greater than 3:1

•

en:manifests in infancy (including neonatal lethal) or childhood

•

en:marked inter- and intrafamilial variability, ranging from prenatal onset with severe symptoms to asymptomatic affected individuals

•

en:may be benign condition

•

en:may be same entity as elejalde syndrome (256710)

•

en:may regress in adulthood

•

en:mean age at onset 35 years (range 20-60)

•

en:median survival is > 50 years

•

en:middle age onset

•

en:milder, childhood form, with onset by age 4 years, lesser cardiac involvement, and hypoketotic hypoglycemia

•

en:mild expression in heterozygous carriers

•

en:more commonly observed in women

•

en:neurotransmitter treatment with l-dopa and serotonin or precursors is effective

•

en:most patients remain ambulatory

•

en:neuromuscular forms can present as perinate, infant, child, or adult

•

en:neonatal/infantile death in most patients

•

en:natural aversion to carbohydrates and favoring of protein

•

en:motor neuropathy more prominent than sensory neuropathy

•

en:most severe form of gaucher disease

•

en:most reported cases come from the island of mauritius or nearby islands

•

en:most patients become wheelchair-bound in later childhood

•

en:more than half of patients develop retinal detachments and/or retinoschisis later in life

•

en:most patients become wheelchair-bound

•

en:most patients are clinically asymptomatic and show normal development

•

en:most have resolution of symptoms between 6 and 12 months

•

en:most common form of autosomal dominant hereditary spastic paraplegia (accounts for 40% of spg cases)

•

en:most common disorder of fatty acid oxidation (1/13,000 births)

•

en:most cases result from a de novo mutation

•

en:males are more severely affected than females

◀

• Mathieu Lafourcade • LIRMM (données libres en Creative Commons - C0 domaine public) •

• This page link : https://www.jeuxdemots.org/diko.php?gotermid=9091541 • caches: c1=8 c2=1003 c3=1

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