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Geleophysic dysplasia

2 OMIM references -
2 associated genes
44 signs/symptoms

COMMON GENES: 1
COMMON SIGNS: 8

Weill-Marchesani syndrome

3 OMIM references -
3 associated genes
19 signs/symptoms

Geleophysic dysplasia

Weill-Marchesani syndrome

ADAMTSL2	(UniProt - OMIM)		ADAMTS10	(UniProt - OMIM)
FBN1	(UniProt - OMIM)		FBN1	(UniProt - OMIM)
			LTBP2	(UniProt - OMIM)


COMMON GENES	FBN1

Citations in the biomedical literature:

Geleophysic dysplasia		Weill-Marchesani syndrome
	Synonym(s): - Geleophysic dwarfism		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: <1 / 1 000 000 Average age onset: childhood Average age of death: - Type of inheritance: autosomal dominant		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: 2 OMIM references - 1 MeSH reference: C537677		External references: 3 OMIM references - 1 MeSH reference: D056846


COMMON SIGNS	- Autosomal recessive inheritance - Intellectual deficit / mental / psychomotor retardation / learning disability - Mitral valve prolapse / incompetence / insufficiency / regurgitation / ring anomaly - Restricted joint mobility / joint stiffness / ankylosis - Short foot / brachydactyly of toes - Short hand / brachydactyly - Short stature / dwarfism / nanism - Thick skin / pachydermia / orange skin

Geleophysic dysplasia		Weill-Marchesani syndrome
	Very frequent - Abnormal vertebral size / shape - Anteverted nares / nostrils - Broad cheeks / cherub-like / cherubin face - Cardiac valvulopathy - Cone epiphyses / epiphysis - Delayed bone age - Femur anomaly / absence / agenesis / hypoplasia / bifurcation - Hypertelorism - Long philtrum - Metacarpal anomalies / Archibald's sign - Philtrum flat / large / featureless / absent cupidon bows - Round face - Short / small nose - Thin / retracted lips Frequent - Abnormal cry / voice / phonation disorder / nasal speech - Aortic valve anomaly / incompetence / insufficiency / regurgitation / bicuspid - Atrial septal defect / interauricular communication - Blepharophimosis / short palpebral fissures - Broad nose / nasal bridge - Chronic / relapsing otitis - Death in infancy - Epiphyseal anomaly - Hearing loss / hypoacusia / deafness - Hepatomegaly / liver enlargement (excluding storage disease) - Intrauterine growth retardation - Mitral valve atresia / stenosis / narrowing - Platyspondyly - Repeat respiratory infections - Respiratory distress / dyspnea / respiratory failure / lung volume reduction - Round ear - Short limbs / micromelia / brachymelia - tricuspid valve atresia / stenosis / narrowing Occasional - Apnea / sleep apnea - Larynx / laryngeal stenosis / atresia - Pulmonary hypertension - Tracheal atresia / stenosis		Very frequent - Aphakia / microphakia / spherophakia / biphakia / absence of lens / lenticone / lentiglobus - Glaucoma - Myopia Frequent - Autosomal dominant inheritance - 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 - Pulmonary valve atresia / stenosis / narrowing - Ventricular septal defect / interventricular communication - Visual loss / blindness / amblyopia