Ablepharon macrostomia syndrome

Ablepharon macrostomia syndrome
Synonyms AMS
Ablepharon macrostomia syndrome has an autosomal recessive pattern of inheritance

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]

Symptoms

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

Genetics

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.

Treatment

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

References

  1. 1 2 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
Classification
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