ODCs

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Dyssegmental dysplasia, Silverman-Handmaker type

1 OMIM reference -
1 associated gene
18 signs/symptoms

PROTEIN INTERACTIONS: 1
COMMON SIGNS: 3

Weill-Marchesani syndrome

3 OMIM references -
3 associated genes
19 signs/symptoms

Dyssegmental dysplasia, Silverman-Handmaker type

Weill-Marchesani syndrome

HSPG2	(UniProt - OMIM)	ADAMTS10	(UniProt - OMIM)
		FBN1	(UniProt - OMIM)
		LTBP2	(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	HSPG2	(0.52)	FBN1

Citations in the biomedical literature:

Dyssegmental dysplasia, Silverman-Handmaker type		Weill-Marchesani syndrome
	Synonym(s): (no synonyms)		Synonym(s): - Spherophakia - brachymorphia

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

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

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

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


COMMON SIGNS	- Autosomal recessive inheritance - Restricted joint mobility / joint stiffness / ankylosis - Short stature / dwarfism / nanism

Dyssegmental dysplasia, Silverman-Handmaker type		Weill-Marchesani syndrome
	Very frequent - Abnormal vertebral size / shape - Blue sclerae - Bowed diaphysis / diaphyses / long bones - Metaphyseal anomaly - Micrognathia / retrognathia / micrognathism / retrognathism - Narrow rib cage / thorax - Pelvis anomaly / Narrow / broad iliac wings / pubis abnormality - Short limbs / micromelia / brachymelia Frequent - Atrial septal defect / interauricular communication - Cleft palate without cleft lip / submucosal cleft palate / bifid uvula - Flattened nose - Inguinal / inguinoscrotal / crural hernia - Respiratory distress / dyspnea / respiratory failure / lung volume reduction - Stillbirth / neonatal death - Umbilical hernia		Very frequent - Aphakia / microphakia / spherophakia / biphakia / absence of lens / lenticone / lentiglobus - Glaucoma - Myopia - Short foot / brachydactyly of toes - Short hand / brachydactyly 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