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Acromicric dysplasia

1 OMIM reference -
1 associated gene
20 signs/symptoms

COMMON GENES: 1

Marfan syndrome type 1

1 OMIM reference -
1 associated gene
No signs/symptoms info

Acromicric dysplasia

Marfan syndrome type 1

FBN1

(UniProt - OMIM)

FBN1

(UniProt - OMIM)


COMMON GENES	FBN1

Citations in the biomedical literature:

Acromicric dysplasia		Marfan syndrome type 1
	Synonym(s): (no synonyms)		Synonym(s): - MFS1

	Classification (Orphanet): - Rare bone disease - Rare developmental defect during embryogenesis - Rare genetic disease		Classification (Orphanet): - Rare circulatory system disease - Rare genetic disease - Rare surgical thoracic disease - Rare systemic or rheumatologic 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: neonatal/infancy Average age of death: - Type of inheritance: autosomal dominant		Epidemiological data: Class of prevalence: - Average age onset: variable Average age of death: any age Type of inheritance: autosomal dominant

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

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
Marfan syndrome type 1
(no data available)