Ablepharon macrostomia syndrome
Overview
Overview
Ablepharon macrostomia syndrome (AMS) is an extremely rare autosomal recessive genetic disorder characterized by malformations of the skull, skin, fingers and genitals.[1] Affected individuals may also have malformations of the nipples and abdominal wall.
Younger individuals might experience language difficulties, and in some instances mental retardation is known.
Genetics
Genetics
It has been suggested that Ablepharon Macrostomia Syndrome is inherited as an autosomal recessive genetic trait.[2]
References
References
- ↑ Ferraz VE, Melo DG, Hansing SE, Cruz AA, Pina-Neto JM (2000). “Ablepharon-macrostomia syndrome: first report of familial occurrence”. Am. J. Med. Genet. 94 (4): 281–3. doi:10.1002/1096-8628(20001002)94:4<281::AID-AJMG3>3.0.CO;2-S. PMID 11038439. Unknown parameter
|month=ignored (help) - ↑ NORD – National Organization for Rare Disorders, Inc
Template:Phakomatoses and other congenital malformations not elsewhere classified
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