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Progeroid and marfanoid aspect-lipodystrophy syndrome

1 associated gene
No signs/symptoms info

COMMON GENES: 1

Geleophysic dysplasia

2 OMIM references -
2 associated genes
44 signs/symptoms

Progeroid and marfanoid aspect-lipodystrophy syndrome

Geleophysic dysplasia

FBN1	(UniProt - OMIM)		ADAMTSL2	(UniProt - OMIM)
			FBN1	(UniProt - OMIM)


COMMON GENES	FBN1

Citations in the biomedical literature:

Progeroid and marfanoid aspect-lipodystrophy syndrome		Geleophysic dysplasia
	Synonym(s): (no synonyms)		Synonym(s): - Geleophysic dwarfism

	Classification (Orphanet): - Rare genetic disease - Rare systemic or rheumatologic disease		Classification (Orphanet): - Rare bone disease - Rare developmental defect during embryogenesis - Rare genetic disease

	Classification (ICD10): - Endocrine, nutritional and metabolic diseases -		Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities -

	Epidemiological data: Class of prevalence: <1 / 1 000 000 Average age onset: neonatal/infancy Average age of death: no data available Type of inheritance: autosomal dominant		Epidemiological data: Class of prevalence: <1 / 1 000 000 Average age onset: childhood Average age of death: - Type of inheritance: autosomal dominant

	External references: No OMIM references No MeSH references		External references: 2 OMIM references - 1 MeSH reference: C537677

Geleophysic dysplasia
	Very frequent - Abnormal vertebral size / shape - Anteverted nares / nostrils - Autosomal recessive inheritance - 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 - Restricted joint mobility / joint stiffness / ankylosis - Round face - Short foot / brachydactyly of toes - Short hand / brachydactyly - Short stature / dwarfism / nanism - 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 - Mitral valve prolapse / incompetence / insufficiency / regurgitation / ring anomaly - Platyspondyly - Repeat respiratory infections - Respiratory distress / dyspnea / respiratory failure / lung volume reduction - Round ear - Short limbs / micromelia / brachymelia - Thick skin / pachydermia / orange skin - tricuspid valve atresia / stenosis / narrowing Occasional - Apnea / sleep apnea - Intellectual deficit / mental / psychomotor retardation / learning disability - Larynx / laryngeal stenosis / atresia - Pulmonary hypertension - Tracheal atresia / stenosis
Progeroid and marfanoid aspect-lipodystrophy syndrome
(no data available)