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