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Copyright 1997, 2001, 2002, 2007
Synonyms of Ablepharon Macrostomia Syndrome
Disorder Subdivisions
General Discussion
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.
Organizations related to Ablepharon Macrostomia Syndrome
- Ambiguous Genitalia Support Network
P.O. Box 313
Clements CA 95227-0313
Phone #: 209-727-0313
800 #: --
e-mail: esagsn@hotmail.com
Home page: N/A
- Children's Craniofacial Association
13140 Coit Road
Suite 517
Dallas TX 75240
Phone #: 214-570-9099
800 #: 800-535-3643
e-mail: contactCCA@ccakids.com
Home page: http://www.ccakids.com
- FACES: The National Craniofacial Association
P. O. Box 11082
Chattanooga TN 37401
Phone #: 423-266-1632
800 #: 800-332-2373
e-mail: faces@faces-cranio.org
Home page: http://www.faces-cranio.org
- Forward Face, Inc.
317 East 34th Street
Suite 901A
New York NY 10016
Phone #: 212-684-5860
800 #: 800-393-3223
e-mail: info@forwardface.org
Home page: http://www.forwardface.org
- Genetic and Rare Diseases (GARD) Information Center
PO Box 8126
Gaithersburg MD 20898-8126
Phone #: 301-251-4925
800 #: 888-205-2311
e-mail: http://rarediseases.info.nih.gov/GARD/EmailForm.aspx
Home page: http://rarediseases.info.nih.gov/GARD
- NIH/National Arthritis and Musculoskeletal and Skin Diseases Information Clearinghouse
1 AMS Circle
Bethesda MD 20892-3675
Phone #: 301-495-4484
800 #: 877-226-4267
e-mail: NIAMSinfo@mail.nih.gov
Home page: http://www.niams.nih.gov/Health_Info
- NIH/National Eye Institute
Building 31 Rm 6A32
31 Center Dr MSC 2510
Bethesda MD 20892-2510
Phone #: 301-496-5248
800 #: --
e-mail: 2020@nei.nih.gov
Home page: http://www.nei.nih.gov/
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