ODCs

Cytoscape Web

Click node...

Progeroid and marfanoid aspect-lipodystrophy syndrome

1 associated gene
No signs/symptoms info

COMMON GENES: 1

Acromicric dysplasia

1 OMIM reference -
1 associated gene
20 signs/symptoms

Progeroid and marfanoid aspect-lipodystrophy syndrome

Acromicric dysplasia

FBN1

(UniProt - OMIM)

FBN1

(UniProt - OMIM)


COMMON GENES	FBN1

Citations in the biomedical literature:

Progeroid and marfanoid aspect-lipodystrophy syndrome		Acromicric dysplasia

	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: neonatal/infancy Average age of death: - Type of inheritance: autosomal dominant

	External references: No OMIM references No MeSH references		External references: 1 OMIM reference - 1 MeSH reference: C535662

Acromicric dysplasia
	Very frequent - Anomalies of eyelids, eyelashes and lacrimal system - Anteverted nares / nostrils - Autosomal dominant inheritance - Long philtrum - Round face - Short hand / brachydactyly - Short stature / dwarfism / nanism - Short / small nose - Small hand / acromicria Frequent - Long / large / bulbous nose - Microstomia / little mouth - Nerve conduction abnormality - Thick lips Occasional - Abnormal cry / voice / phonation disorder / nasal speech - Anomalies of spine, vertebrae and pelvis - Delayed bone age - Epiphyseal anomaly - Femur anomaly / absence / agenesis / hypoplasia / bifurcation - Metacarpal anomalies / Archibald's sign - Restricted joint mobility / joint stiffness / ankylosis
Progeroid and marfanoid aspect-lipodystrophy syndrome
(no data available)