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

Ablepharon macrostomia syndrome has an autosomal recessive pattern of inheritance.

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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