ODCs

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3 OMIM references -
3 associated genes
19 signs/symptoms

PROTEIN INTERACTIONS: 1
COMMON SIGNS: 2

1 OMIM reference -
1 associated gene
12 signs/symptoms

Weill-Marchesani syndrome

Spondylocarpotarsal synostosis


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	FBN1	(0.63)	FLNB

Citations in the biomedical literature:

Weill-Marchesani syndrome		Spondylocarpotarsal synostosis
	Synonym(s): - Spherophakia - brachymorphia		Synonym(s): - Synspondylism

	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: childhood Average age of death: normal Type of inheritance: autosomal recessive

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


COMMON SIGNS	- Autosomal recessive inheritance - Restricted joint mobility / joint stiffness / ankylosis

Weill-Marchesani syndrome		Spondylocarpotarsal synostosis
	Very frequent - Aphakia / microphakia / spherophakia / biphakia / absence of lens / lenticone / lentiglobus - Glaucoma - Myopia - Short foot / brachydactyly of toes - Short hand / brachydactyly - Short stature / dwarfism / nanism Frequent - Autosomal dominant inheritance - 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 - Abnormal vertebral size / shape - Carpal bones fusion / synostosis - Lordosis - Short rib cage / thorax - Vertebral segmentation anomaly / hemivertebrae Occasional - Cleft palate without cleft lip / submucosal cleft palate / bifid uvula - Conductive deafness / hearing loss - Pectus excavatum - Polycystic kidneys - Sensorineural deafness / hearing loss