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Weill-Marchesani syndrome

3 OMIM references -
3 associated genes
19 signs/symptoms

COMMON GENES: 1
COMMON SIGNS: 6

Isolated ectopia lentis

3 OMIM references -
2 associated genes
11 signs/symptoms

Weill-Marchesani syndrome

Isolated ectopia lentis

ADAMTS10	(UniProt - OMIM)		ADAMTSL4	(UniProt - OMIM)
FBN1	(UniProt - OMIM)		FBN1	(UniProt - OMIM)
LTBP2	(UniProt - OMIM)


COMMON GENES	FBN1

Citations in the biomedical literature:

Weill-Marchesani syndrome		Isolated ectopia lentis
	Synonym(s): - Spherophakia - brachymorphia		Synonym(s): - Ectopia lentis syndrome - Familial ectopia lentis

	Classification (Orphanet): - Rare bone disease - Rare developmental defect during embryogenesis - Rare eye disease - Rare genetic disease		Classification (Orphanet): - Rare eye disease - Rare genetic disease - Rare systemic or rheumatologic disease

	Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities -		Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities -

	Epidemiological data: Class of prevalence: 1-9 / 100 000 Average age onset: neonatal/infancy Average age of death: - Type of inheritance: autosomal dominant		Epidemiological data: Class of prevalence: <1 / 1 000 000 Average age onset: variable Average age of death: normal Type of inheritance: autosomal dominant

	External references: 3 OMIM references - 1 MeSH reference: D056846		External references: 3 OMIM references - 2 MeSH references: C536184 / D004479


COMMON SIGNS	- Autosomal dominant inheritance - Cataract / lens opacification - Intellectual deficit / mental / psychomotor retardation / learning disability - Lens dislocation / luxation / subluxation / ectopia lentis - Restricted joint mobility / joint stiffness / ankylosis - Visual loss / blindness / amblyopia

Weill-Marchesani syndrome		Isolated ectopia lentis
	Very frequent - Aphakia / microphakia / spherophakia / biphakia / absence of lens / lenticone / lentiglobus - Autosomal recessive inheritance - Glaucoma - Myopia - Short foot / brachydactyly of toes - Short hand / brachydactyly - Short stature / dwarfism / nanism Frequent - Congenital cardiac anomaly / malformation / cardiopathy - Thick skin / pachydermia / orange skin Occasional - Aortic valve atresia / stenosis / narrowing / supra-aortic / supra-valvular stenosis - Mitral valve prolapse / incompetence / insufficiency / regurgitation / ring anomaly - Pulmonary valve atresia / stenosis / narrowing - Ventricular septal defect / interventricular communication		Frequent - Depressed premaxillary region / midface - Prognathism / prognathia Occasional - Chronic arterial hypertension - Nystagmus - Pupillary anomalies / mydriasis / myosis / tonic pupil