Diseases & Conditions


A B C D E F G H I J K L M N O P Q R S T U V W X Y Z

Ablepharon Macrostomia Syndrome


Synonyms of Ablepharon Macrostomia Syndrome
  • AMS

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.
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    Organizations related to Ablepharon Macrostomia Syndrome
    • Ambiguous Genitalia Support Network
      P.O. Box 313
      Clements CA 95227-0313
      Phone #: N/A
      800 #: --
      e-mail: agsn@inreach.com
      Home page: N/A
    • Children's Craniofacial Association
      13140 Coit Road
      Dallas TX 75240
      Phone #: 214-570-9099
      800 #: 800-535-3643
      e-mail: csmith@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
      New York NY 10016
      Phone #: 212-684-5860
      800 #: 800-393-3223
      e-mail: info@forwardface.org
      Home page: http://www.forwardface.org
    • 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
      Bethesda MD 20892-2510
      Phone #: 301-496-5248
      800 #: --
      e-mail: 2020@nei.nih.gov
      Home page: http://www.nei.nih.gov/



    For a Complete Report

    This is an abstract of a report from the National Organization for Rare Disorders, Inc. ? (NORD). A copy of the complete report can be obtained for a small fee by visiting the NORD website. The complete report contains additional information including symptoms, causes, affected population, related disorders, standard and investigational treatments (if available), and references from medical literature. For a full-text version of this topic, see http://www.rarediseases.org/search/rdblist.html