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Disease found: | Ablepharon macrostomia syndrome |
Current as of: | Thu Nov 21 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. Initial virtual care is also available through organizations like TeleRare Health. |
Clinical Trials: | None are available, but can sign up to be notified when one becomes available |