Overview
Cleft lip-retinopathy syndrome is an extremely rare genetic condition that has been described in only a very small number of families in the medical literature. This condition is now classified as 'obsolete' in medical databases, meaning it may have been reclassified, merged with another diagnosis, or its original description may no longer be considered a distinct syndrome. The condition was originally described as a combination of a cleft lip (a gap or split in the upper lip present at birth) along with abnormalities of the retina (the light-sensing tissue at the back of the eye), which could affect vision. Some affected individuals may also have a cleft palate (an opening in the roof of the mouth). Because so few cases have been reported, our understanding of this condition is very limited. If you or a family member has been given this diagnosis, it is important to work closely with a clinical geneticist who can review the most current medical literature and determine whether a more up-to-date diagnosis or classification applies. Treatment has generally focused on managing the individual features, such as surgical repair of the cleft lip and monitoring of eye health.
Also known as:
Key symptoms:
Cleft lip (a split or gap in the upper lip present at birth)Cleft palate (opening in the roof of the mouth)Retinal abnormalities affecting the back of the eyeVision problems or vision lossDifficulty feeding as a newbornSpeech difficulties
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 OBSOLETE: Cleft lip-retinopathy syndrome.
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Specialists
View all specialists →No specialists are currently listed for OBSOLETE: Cleft lip-retinopathy 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: Cleft lip-retinopathy 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.Is this diagnosis still considered valid, or should we pursue updated genetic testing to reclassify the condition?,What type of retinal abnormality does my child have, and how might it affect their vision over time?,When is the best time for cleft lip or palate repair surgery?,Should we consider whole exome or whole genome sequencing to look for a specific genetic cause?,What specialists should be part of our care team?,Are there any risks for future children in our family having the same condition?,What support services are available for feeding, speech, and vision?
Common questions about OBSOLETE: Cleft lip-retinopathy syndrome
What is OBSOLETE: Cleft lip-retinopathy syndrome?
Cleft lip-retinopathy syndrome is an extremely rare genetic condition that has been described in only a very small number of families in the medical literature. This condition is now classified as 'obsolete' in medical databases, meaning it may have been reclassified, merged with another diagnosis, or its original description may no longer be considered a distinct syndrome. The condition was originally described as a combination of a cleft lip (a gap or split in the upper lip present at birth) along with abnormalities of the retina (the light-sensing tissue at the back of the eye), which could
How is OBSOLETE: Cleft lip-retinopathy syndrome inherited?
OBSOLETE: Cleft lip-retinopathy syndrome follows a autosomal dominant inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does OBSOLETE: Cleft lip-retinopathy syndrome typically begin?
Typical onset of OBSOLETE: Cleft lip-retinopathy syndrome is neonatal. Age of onset can vary across affected individuals.