Ablepharon macrostomia syndrome


Ablepharon Macrostomia Syndrome is an extremely rare inherited genetic disorder that is characterized by different physical abnormalities that affect the head and facial areas, skin, fingers, and the genitalia. The people affected by AMS may also have malformations of the nipples and the abdominal wall.

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  • Absent/short eyelids
  • Absent eyebrows
  • Absent eyelashes
  • External ear abnormalities
  • Alopecia
  • Sparse hair
  • Hypoplastic malar region
  • Excess folds of think skin
  • Nipple abnormalities
  • Absent nipples
  • Abnormal genitalia
  • Wide mouth
  • Small nostrils
  • Triangular nostrils
  • Rudimentary ears
  • Dry skin
  • Coarse skin
  • Webbing between proximal phalanges of fingers
  • Hypoplastic nipples
  • Ambiguous genitals
  • Small penis
  • Retarded development

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Research Publication

    Clinical Trial

    1. No clinical trials found


    1. FACES: The National Craniofacial Association

      From: CheckOrphan


    2. NIH/National Eye Institute

      From: CheckOrphan


    3. Forward Face, Inc.

      From: CheckOrphan


    4. Ambiguous Genitalia Support Network

      From: CheckOrphan


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