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Weill-Marchesani syndrome

3 OMIM references -
3 associated genes
19 signs/symptoms

COMMON GENES: 1
COMMON SIGNS: 5

Stiff skin syndrome

2 OMIM references -
1 associated gene
24 signs/symptoms

Weill-Marchesani syndrome

Stiff skin syndrome

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


COMMON GENES	FBN1

Citations in the biomedical literature:

Weill-Marchesani syndrome		Stiff skin syndrome
	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 genetic disease - Rare skin disease

	Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities -		Classification (ICD10): (no data available)

	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: (no data available)

	External references: 3 OMIM references - 1 MeSH reference: D056846		External references: 2 OMIM references - No MeSH references


COMMON SIGNS	- Autosomal dominant inheritance - Glaucoma - Restricted joint mobility / joint stiffness / ankylosis - Short stature / dwarfism / nanism - Thick skin / pachydermia / orange skin

Weill-Marchesani syndrome		Stiff skin syndrome
	Very frequent - Aphakia / microphakia / spherophakia / biphakia / absence of lens / lenticone / lentiglobus - Autosomal recessive inheritance - Myopia - Short foot / brachydactyly of toes - Short hand / brachydactyly Frequent - Congenital cardiac anomaly / malformation / cardiopathy - Lens dislocation / luxation / subluxation / ectopia lentis 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 - Dermal / subcutaneous infiltration / induration - Tight skin / lack of elasticity Occasional - Abnormal fat distribution / lipodystrophy - Chronic arterial hypertension - Hyperlipidemia / hypercholesterolemia / hypertriglyceridemia - Insensitivity to pain - Insulin-independent / type 2 diabetes - Lipoatrophy - Mid-facial hypoplasia / short / small midface - Muscle anomalies - Muscle hypotrophy / atrophy / dystrophy / agenesis / amyotrophy - Muscle weakness / flaccidity - Peripheral neuropathy - Retinal detachment - Sensorineural deafness / hearing loss - Skin hypoplasia / aplasia / atrophy - Strabismus / squint - Subcutaneous nodules / lipomas / tumefaction / swelling - Urinary / renal lithiasis / kidney stones / nephritic colic