Ablepharon macrostomia syndrome

Ablepharon macrostomia syndrome

Infobox_Disease
Name = PAGENAME


Caption =
DiseasesDB = 33818
ICD10 = ICD10|Group|Major|minor|LinkGroup|LinkMajor
ICD9 = ICD9|xxx
ICDO =
OMIM = 200110
MedlinePlus =
eMedicineSubj =
eMedicineTopic =
MeshID =

Ablepharon macrostomia syndrome (AMS) is an extremely rare autosomal recessive genetic disorder characterized by malformations of the skull, skin, fingers and genitals.cite journal |author=Ferraz VE, Melo DG, Hansing SE, Cruz AA, Pina-Neto JM |title=Ablepharon-macrostomia syndrome: first report of familial occurrence |journal=Am. J. Med. Genet. |volume=94 |issue=4 |pages=281–3 |year=2000 |month=October |pmid=11038439 |doi= |url=http://dx.doi.org/10.1002/1096-8628(20001002)94:4<281::AID-AJMG3>3.0.CO;2-S] 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

It has been suggested that Ablepharon Macrostomia Syndrome is inherited as an autosomal recessive genetic trait. [ [http://www.rarediseases.org/search/rdbdetail_abstract.html?disname=Ablepharon%20Macrostomia%20Syndrome NORD - National Organization for Rare Disorders, Inc ] ]

ee also

*Barber-say syndrome
*Ablepharon

References


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