Overview
Auricular abnormalities-cleft lip with or without cleft palate-ocular abnormalities syndrome is a very rare condition present from birth that affects several parts of the face and head at the same time. It is sometimes referred to by its Orphanet code ORPHA:77300. The main features include unusual shape or structure of the outer ears (auricular abnormalities), a split in the upper lip (cleft lip) that may or may not come with a gap in the roof of the mouth (cleft palate), and problems with the eyes (ocular abnormalities). These features can vary quite a bit from one person to another, even within the same family. The ear changes can affect how the ear looks on the outside and may or may not affect hearing. The cleft lip and palate can make feeding, speaking, and dental development more challenging. Eye problems can range from differences in eyelid shape to more significant vision concerns, depending on the individual. Treatment focuses on managing each feature separately. Surgical repair of the cleft lip and palate is usually done in infancy and early childhood. Hearing assessments and ear-related care are important early on. Eye specialists monitor and treat any vision problems. A team of specialists working together gives the best results. With the right support, many people with this syndrome can lead full and active lives.
Key symptoms:
Unusual shape or size of the outer earCleft lip (a split or gap in the upper lip)Cleft palate (a gap in the roof of the mouth)Eye abnormalities such as drooping eyelids or unusual eye shapePossible hearing difficultiesFeeding problems in infancySpeech and language delaysDental problems related to cleft palatePossible vision problems
Clinical phenotype terms (22)— hover any for plain English
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 Auricular abnormalities-cleft lip with or without cleft palate-ocular abnormalities syndrome.
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Specialists
View all specialists →No specialists are currently listed for Auricular abnormalities-cleft lip with or without cleft palate-ocular abnormalities 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 Auricular abnormalities-cleft lip with or without cleft palate-ocular abnormalities 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.What is the likely cause of my child's condition, and should we have genetic testing?,What surgeries will my child need, and when should they happen?,How will we know if my child has hearing loss, and what are the treatment options?,What eye problems should we watch for, and how often should we see an eye specialist?,When should speech therapy start, and what can we do at home to help?,Are there other specialists my child should see as part of a care team?,What is the chance that future children could be affected by the same condition?
Common questions about Auricular abnormalities-cleft lip with or without cleft palate-ocular abnormalities syndrome
What is Auricular abnormalities-cleft lip with or without cleft palate-ocular abnormalities syndrome?
Auricular abnormalities-cleft lip with or without cleft palate-ocular abnormalities syndrome is a very rare condition present from birth that affects several parts of the face and head at the same time. It is sometimes referred to by its Orphanet code ORPHA:77300. The main features include unusual shape or structure of the outer ears (auricular abnormalities), a split in the upper lip (cleft lip) that may or may not come with a gap in the roof of the mouth (cleft palate), and problems with the eyes (ocular abnormalities). These features can vary quite a bit from one person to another, even wit
At what age does Auricular abnormalities-cleft lip with or without cleft palate-ocular abnormalities syndrome typically begin?
Typical onset of Auricular abnormalities-cleft lip with or without cleft palate-ocular abnormalities syndrome is neonatal. Age of onset can vary across affected individuals.