ODCs

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3 OMIM references -
3 associated genes
19 signs/symptoms

PROTEIN INTERACTIONS: 1
COMMON SIGNS: 5

1 OMIM reference -
1 associated gene
21 signs/symptoms

Weill-Marchesani syndrome

Congenital contractural arachnodactyly


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	FBN1	(0.62)	FBN2

Citations in the biomedical literature:

Weill-Marchesani syndrome		Congenital contractural arachnodactyly
	Synonym(s): - Spherophakia - brachymorphia		Synonym(s): - Beals syndrome - Beals-Hecht syndrome - CCA syndrome - Distal arthrogryposis type 9

	Classification (Orphanet): - Rare bone disease - Rare developmental defect during embryogenesis - Rare eye disease - Rare genetic disease		Classification (Orphanet): - Rare developmental defect during embryogenesis - 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: unknown 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: C536211


COMMON SIGNS	- Autosomal dominant inheritance - Congenital cardiac anomaly / malformation / cardiopathy - Lens dislocation / luxation / subluxation / ectopia lentis - Mitral valve prolapse / incompetence / insufficiency / regurgitation / ring anomaly - Restricted joint mobility / joint stiffness / ankylosis

Weill-Marchesani syndrome		Congenital contractural arachnodactyly
	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 - 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 - Pulmonary valve atresia / stenosis / narrowing - Ventricular septal defect / interventricular communication - Visual loss / blindness / amblyopia		Very frequent - Arthrogryposis - Camptodactyly of fingers - Contractures / cramps / trismus / tetania / claudication / opisthotonos - External ear anomalies - Helix / crux helix absent / abnormal / adherent / crux cymbae / posterior helix pits - High vaulted / narrow palate - Kyphosis - Long hand / arachnodactyly - Long limbs / dolichostenomelia - Muscle anomalies - Scoliosis Frequent - Marfanoid morphotype Occasional - Aortic dilatation / dilation - Duodenal atresia / stenosis / megaduodenum - Intestinal / gut / bowel malrotation - Tracheo-esophageal fistula / esophageal atresia / stenosis