Ablepharon macrostomia syndrome

Overview

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.

Hide all

Symptoms Hide

  • 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

Causes Hide

Prevention Hide

Diagnosis Hide

Prognosis Hide

Treatment Hide

Tips Hide

News

Submit News

iWish

  • No iWish found

Submit an iWish

Research Publication

    Clinical Trial

    1. No clinical trials found

    Links

    1. FACES: The National Craniofacial Association

      From: CheckOrphan

      More…

    2. NIH/National Eye Institute

      From: CheckOrphan

      More…

    3. Forward Face, Inc.

      From: CheckOrphan

      More…

    4. Ambiguous Genitalia Support Network

      From: CheckOrphan

      More…

    Submit a Link