Overview
Ankyloblepharon filiforme adnatum-cleft palate syndrome (also known as ankyloblepharon-cleft palate syndrome or Hay-Wells-like syndrome variant) is an extremely rare congenital disorder characterized by the combination of ankyloblepharon filiforme adnatum (thin strands of tissue connecting the upper and lower eyelids) and cleft palate. This condition is present at birth and primarily affects the craniofacial structures, including the eyes and the oral cavity. Ankyloblepharon filiforme adnatum refers to small, delicate bands of tissue (filiforme strands) that partially fuse the eyelid margins together, restricting the ability to fully open the eyes. These strands can usually be divided relatively easily by a clinician shortly after birth. The cleft palate component involves an incomplete closure of the roof of the mouth, which can affect feeding, speech development, and may increase the risk of ear infections. This condition should be distinguished from the more complex Hay-Wells syndrome (AEC syndrome), which involves additional ectodermal features such as skin erosions and hair abnormalities. Management is primarily surgical and supportive. The eyelid strands are typically treated by simple lysis (cutting) shortly after birth, which is a minor procedure. Cleft palate repair requires surgical intervention, usually performed in the first year or two of life, followed by speech therapy and ongoing monitoring for hearing and dental issues. A multidisciplinary team including ophthalmologists, plastic surgeons, speech therapists, and geneticists is recommended for optimal care. Long-term prognosis is generally favorable with appropriate treatment.
Clinical phenotype terms— hover any for plain English:
Autosomal dominant
Passed on from just one parent; each child has about a 50% chance of inheriting it
Neonatal
Begins at or shortly after birth (first 4 weeks)
Treatments
No FDA-approved treatments are currently listed for Ankyloblepharon filiforme adnatum-cleft palate syndrome.
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Specialists
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Treatment Centers
8 centersBaylor College of Medicine Rare Disease Center ↗
Baylor College of Medicine
📍 Houston, TX
🏥 NORDStanford Medicine Rare Disease Center ↗
Stanford Medicine
📍 Stanford, CA
🔬 UDNNIH Clinical Center Undiagnosed Diseases Program ↗
National Institutes of Health
📍 Bethesda, MD
🔬 UDNUCLA UDN Clinical Site ↗
UCLA Health
📍 Los Angeles, CA
🔬 UDNBaylor College of Medicine UDN Clinical Site ↗
Baylor College of Medicine
📍 Houston, TX
🔬 UDNHarvard/MGH UDN Clinical Site ↗
Massachusetts General Hospital
📍 Boston, MA
🏥 NORDMayo Clinic Center for Individualized Medicine ↗
Mayo Clinic
📍 Rochester, MN
👤 Mayo Clinic Center for Individualized Medicine
🏥 NORDUCLA Rare Disease Day Program ↗
UCLA Health
📍 Los Angeles, CA
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Common questions about Ankyloblepharon filiforme adnatum-cleft palate syndrome
What is Ankyloblepharon filiforme adnatum-cleft palate syndrome?
Ankyloblepharon filiforme adnatum-cleft palate syndrome (also known as ankyloblepharon-cleft palate syndrome or Hay-Wells-like syndrome variant) is an extremely rare congenital disorder characterized by the combination of ankyloblepharon filiforme adnatum (thin strands of tissue connecting the upper and lower eyelids) and cleft palate. This condition is present at birth and primarily affects the craniofacial structures, including the eyes and the oral cavity. Ankyloblepharon filiforme adnatum refers to small, delicate bands of tissue (filiforme strands) that partially fuse the eyelid margins
How is Ankyloblepharon filiforme adnatum-cleft palate syndrome inherited?
Ankyloblepharon filiforme adnatum-cleft palate syndrome follows a autosomal dominant inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does Ankyloblepharon filiforme adnatum-cleft palate syndrome typically begin?
Typical onset of Ankyloblepharon filiforme adnatum-cleft palate syndrome is neonatal. Age of onset can vary across affected individuals.