Primary care
Recommendation 1
Surgical repair, specialist referral, and therapy
Ablepharon macrostomia syndrome
Not yet reviewedThis information is AI generated and has not yet been reviewed by a specialist physician. AI can make mistakes.
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
ZebraMD is partnering with Ambry Genetics for clinical-grade whole genome testing for rare diseases. Ambry accepts insurance. If you don’t have a physician to order this test, join our referral list and our team will reach out.
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
Clinical Trials
Sources
No data available
Interested in learning more about Ablepharon macrostomia syndrome?
Follow to receive regular updates to the latest research development on this disease via email newsletter.