Ankyloblepharon filiforme adnatum-cleft palate syndrome

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ORPHA:1072OMIM:106250Q87.0
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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:

AnkyloblepharonHP:0009755Amniotic constriction ringHP:0009775Lip pitHP:0100267
Inheritance

Autosomal dominant

Passed on from just one parent; each child has about a 50% chance of inheriting it

Age of Onset

Neonatal

Begins at or shortly after birth (first 4 weeks)

Orphanet ↗OMIM ↗NORD ↗

Treatments

No FDA-approved treatments are currently listed for Ankyloblepharon filiforme adnatum-cleft palate syndrome.

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No specialists are currently listed for Ankyloblepharon filiforme adnatum-cleft palate syndrome.

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Treatment Centers

8 centers
🏥 NORD

Baylor College of Medicine Rare Disease Center

Baylor College of Medicine

📍 Houston, TX

🏥 NORD

Stanford Medicine Rare Disease Center

Stanford Medicine

📍 Stanford, CA

🔬 UDN

NIH Clinical Center Undiagnosed Diseases Program

National Institutes of Health

📍 Bethesda, MD

🔬 UDN

UCLA UDN Clinical Site

UCLA Health

📍 Los Angeles, CA

🔬 UDN

Baylor College of Medicine UDN Clinical Site

Baylor College of Medicine

📍 Houston, TX

🔬 UDN

Harvard/MGH UDN Clinical Site

Massachusetts General Hospital

📍 Boston, MA

🏥 NORD

Mayo Clinic Center for Individualized Medicine

Mayo Clinic

📍 Rochester, MN

👤 Mayo Clinic Center for Individualized Medicine

🏥 NORD

UCLA Rare Disease Day Program

UCLA Health

📍 Los Angeles, CA

Travel Grants

No travel grants are currently matched to Ankyloblepharon filiforme adnatum-cleft palate syndrome.

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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.