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Weill-Marchesani syndrome

3 OMIM references -
3 associated genes
19 signs/symptoms

COMMON GENES: 1
COMMON SIGNS: 4

Acromicric dysplasia

1 OMIM reference -
1 associated gene
20 signs/symptoms

Weill-Marchesani syndrome

Acromicric dysplasia

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


COMMON GENES	FBN1

Citations in the biomedical literature:

Weill-Marchesani syndrome		Acromicric dysplasia
	Synonym(s): - Spherophakia - brachymorphia		Synonym(s): (no synonyms)

	Classification (Orphanet): - Rare bone disease - Rare developmental defect during embryogenesis - Rare eye disease - Rare genetic disease		Classification (Orphanet): - Rare bone disease - Rare developmental defect during embryogenesis - Rare genetic 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: neonatal/infancy Average age of death: - Type of inheritance: autosomal dominant

	External references: 3 OMIM references - 1 MeSH reference: D056846		External references: 1 OMIM reference - 1 MeSH reference: C535662


COMMON SIGNS	- Autosomal dominant inheritance - Restricted joint mobility / joint stiffness / ankylosis - Short hand / brachydactyly - Short stature / dwarfism / nanism

Weill-Marchesani syndrome		Acromicric dysplasia
	Very frequent - Aphakia / microphakia / spherophakia / biphakia / absence of lens / lenticone / lentiglobus - Autosomal recessive inheritance - Glaucoma - Myopia - Short foot / brachydactyly of toes Frequent - Congenital cardiac anomaly / malformation / cardiopathy - Lens dislocation / luxation / subluxation / ectopia lentis - Thick skin / pachydermia / orange skin Occasional - Aortic valve atresia / stenosis / narrowing / supra-aortic / supra-valvular stenosis - Cataract / lens opacification - Intellectual deficit / mental / psychomotor retardation / learning disability - Mitral valve prolapse / incompetence / insufficiency / regurgitation / ring anomaly - Pulmonary valve atresia / stenosis / narrowing - Ventricular septal defect / interventricular communication - Visual loss / blindness / amblyopia		Very frequent - Anomalies of eyelids, eyelashes and lacrimal system - Anteverted nares / nostrils - Long philtrum - Round face - Short / small nose - Small hand / acromicria Frequent - Long / large / bulbous nose - Microstomia / little mouth - Nerve conduction abnormality - Thick lips Occasional - Abnormal cry / voice / phonation disorder / nasal speech - Anomalies of spine, vertebrae and pelvis - Delayed bone age - Epiphyseal anomaly - Femur anomaly / absence / agenesis / hypoplasia / bifurcation - Metacarpal anomalies / Archibald's sign