Ablepharon macrostomia syndrome

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Ablepharon macrostomia syndrome
ICD-10 GroupMajor.minor
ICD-9 xxx
OMIM 200110
DiseasesDB 33818

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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

File:Autorecessive.svg

It has been suggested that Ablepharon Macrostomia Syndrome is inherited as an autosomal recessive genetic trait.[2]

See also

References

  1. 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)
  2. NORD - National Organization for Rare Disorders, Inc

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