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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

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