Overview
Blepharoptosis-cleft palate-ectrodactyly-dental anomalies syndrome is an extremely rare condition that has been described in only a very small number of individuals in the medical literature. This condition is now classified as 'obsolete' in medical databases, meaning it may have been reclassified or merged with another recognized syndrome as scientific understanding has advanced. The syndrome was originally described as a combination of drooping eyelids (blepharoptosis), an opening in the roof of the mouth (cleft palate), missing or underdeveloped fingers or toes (ectrodactyly, sometimes called split hand/foot), and abnormalities of the teeth. These features are present from birth and can affect a child's appearance, ability to eat, vision, and hand function. Because this condition is so rare and has been reclassified, there is very limited information about its genetic cause, natural history, and optimal treatment. Management has generally focused on treating each symptom individually through surgery, dental care, and supportive therapies. Families affected by this combination of features should work closely with a clinical geneticist to determine whether a more current diagnosis or classification applies to their situation.
Also known as:
Key symptoms:
Drooping eyelids (ptosis)Cleft palate (opening in the roof of the mouth)Missing or split fingers or toesAbnormal or missing teethDifficulty feeding in infancySpeech difficultiesVision problems due to drooping eyelidsReduced hand or foot functionDental crowding or misalignment
Variable
Can be inherited in different ways depending on the underlying gene
Neonatal
Begins at or shortly after birth (first 4 weeks)
Treatments
No FDA-approved treatments are currently listed for OBSOLETE: Blepharoptosis-cleft palate-ectrodactyly-dental anomalies syndrome.
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Specialists
View all specialists →No specialists are currently listed for OBSOLETE: Blepharoptosis-cleft palate-ectrodactyly-dental anomalies syndrome.
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
Travel Grants
No travel grants are currently matched to OBSOLETE: Blepharoptosis-cleft palate-ectrodactyly-dental anomalies syndrome.
Community
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Caregiver Resources
NORD Caregiver Resources
Support, advocacy, and financial assistance for caregivers of rare disease patients.
Mental Health Support
Rare disease caregiving can be isolating. Connect with counseling and peer support.
Family & Caregiver Grants
Financial assistance programs specifically for caregivers of rare disease patients.
Social Security Disability
Learn how rare disease patients may qualify for SSDI/SSI benefits.
Questions for your doctor
Bring these to your next appointment
- Q1.Has this diagnosis been reclassified under a more current syndrome name?,Would genetic testing help identify a specific cause for my child's condition?,What is the recommended timeline for cleft palate repair and eyelid surgery?,What feeding strategies should we use before surgery?,How often should my child see an eye doctor and a dentist?,Will my child need hand or foot surgery, and when is the best time?,What is the chance that future children could be affected?
Common questions about OBSOLETE: Blepharoptosis-cleft palate-ectrodactyly-dental anomalies syndrome
What is OBSOLETE: Blepharoptosis-cleft palate-ectrodactyly-dental anomalies syndrome?
Blepharoptosis-cleft palate-ectrodactyly-dental anomalies syndrome is an extremely rare condition that has been described in only a very small number of individuals in the medical literature. This condition is now classified as 'obsolete' in medical databases, meaning it may have been reclassified or merged with another recognized syndrome as scientific understanding has advanced. The syndrome was originally described as a combination of drooping eyelids (blepharoptosis), an opening in the roof of the mouth (cleft palate), missing or underdeveloped fingers or toes (ectrodactyly, sometimes call
At what age does OBSOLETE: Blepharoptosis-cleft palate-ectrodactyly-dental anomalies syndrome typically begin?
Typical onset of OBSOLETE: Blepharoptosis-cleft palate-ectrodactyly-dental anomalies syndrome is neonatal. Age of onset can vary across affected individuals.