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| Disease found: | Ablepharon macrostomia syndrome |
| Current as of: | Mon Sep 16 2024 |
| Disease Overview: | Spontaneous or autosomal dominant condition that is characterized by absent eyelids (ablepharon) and very large mouth (macrostomia), caused by mutations in the TWIST2 gene. [more info] |
| Signs and Symptoms: | syndactyly of the hands and feet, dry and coarse skin, redundant folds of skin, absent hair, genital malformations, developmental delay, malar hypoplasia, hypoplastic nipples [more info] |
| Diagnosis: | Clinical evaluation and physical exam findings of symptoms [more info] |
| Treatment: | Surgical repair |
| Clinical Management: | Surgical repair, specialist referral, and therapy [more info] |
| Referral: | No specific physicians specialize in this condition, often managed by Pediatrics. Referral to Medical Genetics Department, if available. TeleRare Health for virtual care and consults is also recommended. |
| Clinical Trials: | None are available, but can sign up to be notified when one becomes available |