ablepharon macrostomia syndrome

Ablepharon macrostomia syndrome is an extremely rare condition that affects many parts of the body. People with this condition often have a combination of physical features including missing or underdeveloped eyelids (ablepharon), a larger than normal mouth (macrostomia), and abnormal external ear formation. Other common features include skin findings such as dry or coarse skin, abnormal hair growth with absent or sparse hair, and limb differences including fused fingers or toes (syndactyly). Additional signs can include genital malformations, developmental delays in many cases, and unique facial differences, sometimes overlapping with features seen in related conditions like Fraser syndrome. Overall, the syndrome affects multiple systems in the body, and the specific features can vary from person to person.

Common symptoms include absent or underdeveloped eyelids, an unusually large mouth, abnormal external ear appearance, and syndactyly (fusion of fingers or toes). People may also have skin issues such as dry and coarse skin or extra folds of skin. Other symptoms reported are sparse or absent hair, genital malformations, developmental delays (noted in about two thirds of cases), and other facial and body abnormalities.

Ablepharon macrostomia syndrome is mainly a sporadic condition, which means it usually occurs by chance without a family history. However, a few familial cases have been reported. The TWIST2 gene has been associated with this condition, suggesting that changes in this gene may play a role in its development.

Information about treatment is currently limited for this condition.

Information about prognosis is currently limited for this condition.

Information about research is currently limited for this condition.