Ablepharon macrostomia syndrome

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Ablepharon macrostomia syndrome Classification and external resources
ICD-10	GroupMajor.minor
ICD-9	xxx
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. 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.

[edit] 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.^[1]

[edit] See also

Barber-say syndrome

[edit] References

^ NORD - National Organization for Rare Disorders, Inc

v • d • e Congenital abnormality - multiple abnormalities (Q87, 759.7)

Facial	Acrocephalosyndactylia (Apert syndrome, Saethre-Chotzen syndrome, Pfeiffer syndrome, Carpenter syndrome, Sakati-Nyhan-Tisdale syndrome) - Mobius syndrome - Goldenhar syndrome - Cyclopia

Short stature	Aarskog-Scott syndrome - Cockayne syndrome - Cornelia de Lange Syndrome - Dubowitz syndrome - Noonan syndrome - Robinow syndrome - Silver-Russell dwarfism - Seckel syndrome - Smith-Lemli-Opitz syndrome

Limbs	Adducted thumb syndrome - Holt-Oram syndrome - Klippel-Trenaunay-Weber syndrome - Nail-patella syndrome - Rubinstein-Taybi syndrome - Sirenomelia - VACTERL association

Overgrowth	Beckwith-Wiedemann syndrome - Sotos syndrome - Weaver syndrome

Collagen	Alport syndrome

Combined/other, known locus	3 (Zimmerman-Laband syndrome) - 4/13 (Fraser syndrome) - 8 (Branchio-oto-renal syndrome) - 11/16 (Bardet-Biedl syndrome) - 12 (Keutel syndrome, Timothy syndrome) - 15 (Marfan syndrome) - 19 (Donohue syndrome)

Combined/other, unknown locus	Ablepharon macrostomia syndrome - Fountain syndrome - Urban-Rogers-Meyer syndrome - Vici syndrome - Yunis-Varon syndrome - Zori Stalker Williams syndrome