PRIMARY CARE
Recommendation 1
Surgical repair, specialist referral, and therapy
Ablepharon macrostomia syndrome
Not Verified
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.
Common symptoms
syndactyly of the hands and feetdry and coarse skinredundant folds of skinabsent hairgenital malformationsdevelopmental delaymalar hypoplasiahypoplastic nipples
WHEN TO SUSPECT
Recommendation 1
Clinical evaluation and physical exam findings of symptoms
HOW TO TEST
Recommendation 1
Clinical evaluation and physical exam findings of symptoms
TREATMENT
Recommendation 1
Surgical repair
FURTHER SUPPORT
Recommendation 1
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
Recommendation 1
None are available, but can sign up to be notified when one becomes available
Sources
No data available
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