Ablepharon Macrostomia Syndrome
National Organization for Rare Disorders, Inc.
It is possible that the main title of the report Ablepharon Macrostomia Syndrome is not the name you expected. Please check the synonyms listing to find the alternate name(s) and disorder subdivision(s) covered by this report.
Ablepharon-Macrostomia Syndrome (AMS) is an extremely rare inherited disorder characterized by various physical abnormalities affecting the head and facial (craniofacial) area, the skin, the fingers, and the genitals. In addition, affected individuals may have malformations of the nipples and the abdominal wall. Infants and children with AMS may also experience delays in language development and, in some cases, mental retardation.
In infants with Ablepharon-Macrostomia Syndrome, characteristic craniofacial features may include absence or severe underdevelopment of the upper and lower eyelids (ablepharon or microblepharon) as well as absence of eyelashes and eyebrows; an unusually wide, "fish-like" mouth (macrostomia); and/or incompletely developed (rudimentary), low-set ears (pinnae). Abnormalities of the eyes may occur due to, or in association with, ablepharon or microblepharon. Individuals with AMS may also have additional characteristic features including abnormally sparse, thin hair; thin, wrinkled skin with excess (redundant) folds; webbed fingers with limited extension; and/or malformations of the external genitals. In some cases, additional features associated with AMS may include absent or abnormally small (hypoplastic) nipples and/or abdominal wall abnormalities. Although the exact cause of Ablepharon-Macrostomia Syndrome is not fully understood, some cases suggest that the disorder may be inherited as an autosomal recessive genetic trait.
Children's Craniofacial Association
13140 Coit Road
Dallas, TX 75240
Ambiguous Genitalia Support Network
P.O. Box 313
Clements, CA 95227-0313
FACES: The National Craniofacial Association
P. O. Box 11082
Chattanooga, TN 37401
Forward Face, Inc.
317 East 34th Street
New York, NY 10016
NIH/National Arthritis and Musculoskeletal and Skin Diseases Information Clearinghouse
1 AMS Circle
Bethesda, MD 20892-3675
NIH/National Eye Institute
Building 31 Rm 6A32
31 Center Dr MSC 2510
Bethesda, MD 20892-2510
Genetic and Rare Diseases (GARD) Information Center
PO Box 8126
Gaithersburg, MD 20898-8126
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