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Ablepharon Macrostomia Syndrome

Ablepharon Macrostomia Syndrome is a genetic birth defect known for the absence of eyelashes and eyebrows, a wide mouth (macrostomia), and auricular, nasal, genital, and other systemic anomalies.

Ablepharon literally means absence of eyelids although many patients have shortened eyelids

Signs of Ablepharon Macrostomia Syndrome

  • Absence or severe underdevelopment of the upper and lower eyelids
  • Absence of eyelashes and eyebrows
  • Unusually wide mouth
  • Not fully developed and low set ears

Other signs Ablepharon Macrostomia Syndrome of  may be:

  • sparse thin hair
  • wrinkled skin
  • webbed fingers
  • malformations of the external genitals

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