- 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 theskull , skin, fingers andgenital s.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 andabdominal 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 gene tic trait. [ [http://www.rarediseases.org/search/rdbdetail_abstract.html?disname=Ablepharon%20Macrostomia%20Syndrome NORD - National Organization for Rare Disorders, Inc ] ]ee also
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Barber-say syndrome
*Ablepharon References
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