Definition of Ablepharon macrostomia

Reviewed on 12/27/2019

Ablepharon macrostomia: a rare genetic disorder characterized by abnormal appearance of the face, skull, fingers, skin, and genitals. Underdeveloped or absent eyelids (ablepharon) along with a fish-shaped mouth (macrostomia) are key features of the condition. The nipples and abdominal wall may also be malformed. Children with the disorder may experience delayed language development, learning difficulties, and intellectual disabilities.

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References
Ablepharon-Macrostomia Syndrome. National Organization for Rare Disorders (NORD). 2007.
<https://rarediseases.org/rare-diseases/ablepharon-macrostomia-syndrome/>

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