Overview
Cleft palate-large ears-small head syndrome is an extremely rare genetic condition that affects the development of several parts of the body. It is sometimes referred to by its Orphanet designation (ORPHA:2013). The hallmark features of this syndrome include a cleft palate (an opening in the roof of the mouth), unusually large ears, and microcephaly (a smaller-than-expected head size). Children born with this condition may also have intellectual disability, short stature, and distinctive facial features. Because the head is smaller than usual, brain development may be affected, which can lead to learning difficulties and developmental delays. The cleft palate can cause problems with feeding in infancy, speech development, and may increase the risk of ear infections. The combination of these features together in one individual is what distinguishes this syndrome from other conditions that may share some overlapping symptoms. Because this syndrome is so rare, there are very few cases described in the medical literature, which limits our understanding of the full range of symptoms and outcomes. There is currently no cure for this condition. Treatment is supportive and focuses on managing individual symptoms. Surgical repair of the cleft palate is typically performed in infancy or early childhood. Speech therapy, developmental support, and regular monitoring by a team of specialists are important parts of ongoing care. Early intervention programs can help children reach their developmental potential.
Also known as:
Key symptoms:
Opening in the roof of the mouth (cleft palate)Unusually large earsSmall head size (microcephaly)Intellectual disabilityShort statureDevelopmental delaysFeeding difficulties in infancySpeech problemsDistinctive facial featuresLow-set earsDelayed motor milestones
Clinical phenotype terms (19)— hover any for plain English
Autosomal recessive
Passed on when both parents carry the same gene change; often skips generations
Neonatal
Begins at or shortly after birth (first 4 weeks)
Treatments
No FDA-approved treatments are currently listed for Cleft palate-large ears-small head syndrome.
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Specialists
View all specialists →No specialists are currently listed for Cleft palate-large ears-small head 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 Cleft palate-large ears-small head syndrome.
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Caregiver Resources
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Questions for your doctor
Bring these to your next appointment
- Q1.What is the best timing for cleft palate repair surgery for my child?,What developmental milestones should I watch for, and when should I be concerned?,How often should my child have hearing tests?,What early intervention services are available and how do I access them?,Should our family undergo genetic testing to understand the cause and recurrence risk?,Are there any specialists or centers with experience in this specific syndrome?,What educational supports will my child likely need as they grow?
Common questions about Cleft palate-large ears-small head syndrome
What is Cleft palate-large ears-small head syndrome?
Cleft palate-large ears-small head syndrome is an extremely rare genetic condition that affects the development of several parts of the body. It is sometimes referred to by its Orphanet designation (ORPHA:2013). The hallmark features of this syndrome include a cleft palate (an opening in the roof of the mouth), unusually large ears, and microcephaly (a smaller-than-expected head size). Children born with this condition may also have intellectual disability, short stature, and distinctive facial features. Because the head is smaller than usual, brain development may be affected, which can lead
How is Cleft palate-large ears-small head syndrome inherited?
Cleft palate-large ears-small head syndrome follows a autosomal recessive inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does Cleft palate-large ears-small head syndrome typically begin?
Typical onset of Cleft palate-large ears-small head syndrome is neonatal. Age of onset can vary across affected individuals.