Ablepharon macrostomia syndrome

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Ablepharon macrostomia syndrome
Classification and external resources
ICD-10 GroupMajor.minor
OMIM 200110
DiseasesDB 33818

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.[2]

Genetics[edit]

Ablepharon macrostomia syndrome has an autosomal recessive pattern of inheritance.

It has been suggested that AMS is inherited in an autosomal recessive manner.[1][3] This means the defective gene responsible for the disorder is located on an autosome, and two copies of the defective gene (one inherited from each parent) are required in order to be born with the disorder. The parents of an individual with an autosomal recessive disorder both carry one copy of the defective gene, but usually do not experience any signs or symptoms of the disorder.

Symptoms[edit]

  • Absent/short eyelids
  • Absent eyebrows
  • Absent eyelashes
  • External ear abnormalities
  • Alopecia

Treatment[edit]

Treatment usually involves plastic and reconstructive surgery. Surgery may be needed to correct undescended testes or hernias.

See also[edit]

References[edit]

  1. ^ a b Ferraz VE, Melo DG, Hansing SE, Cruz AA, Pina-Neto JM (October 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. 
  2. ^ "Ablepharon macrostomia syndrome". Retrieved 2009-11-24.
  3. ^ NORD - National Organization for Rare Disorders, Inc