Overview
Microbrachycephaly-ptosis-cleft lip syndrome is an extremely rare genetic condition that affects the development of the skull, face, and other parts of the body. The name describes its main features: microbrachycephaly (a small, short head), ptosis (drooping of the upper eyelids), and cleft lip (a gap or split in the upper lip). Children born with this syndrome may also have cleft palate, intellectual disability, and other facial differences such as a flat nasal bridge or widely spaced eyes. This condition is present from birth and is typically noticed right away due to the visible facial features and unusual head shape. The skull is both smaller than expected (microcephaly) and shorter from front to back (brachycephaly), which can be associated with differences in brain development and may contribute to developmental delays or intellectual disability of varying degrees. Because this syndrome is so rare, there is no specific cure or targeted treatment. Management focuses on addressing individual symptoms. Surgical repair of cleft lip and palate is commonly performed in infancy. Drooping eyelids may also be corrected surgically if they affect vision. Children may benefit from early intervention programs including speech therapy, occupational therapy, and special education support. A team of specialists is usually needed to coordinate care and monitor development over time.
Also known as:
Key symptoms:
Small head sizeShort, wide head shapeDrooping upper eyelidsCleft lip (gap in the upper lip)Cleft palate (opening in the roof of the mouth)Intellectual disabilityDevelopmental delaysFlat nasal bridgeWidely spaced eyesShort statureFeeding difficulties in infancySpeech difficulties
Clinical phenotype terms (36)— 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 Microbrachycephaly-ptosis-cleft lip syndrome.
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Specialists
View all specialists →No specialists are currently listed for Microbrachycephaly-ptosis-cleft lip 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 Microbrachycephaly-ptosis-cleft lip 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
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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 expected timeline for cleft lip and palate repair surgeries?,Will my child's drooping eyelids need surgical correction, and when?,What early intervention services should we start, and how soon?,Should we pursue genetic testing, and what might it tell us?,What is the expected level of intellectual development for my child?,How often should we schedule follow-up visits with each specialist?,Are there any clinical studies or registries we should consider joining?
Common questions about Microbrachycephaly-ptosis-cleft lip syndrome
What is Microbrachycephaly-ptosis-cleft lip syndrome?
Microbrachycephaly-ptosis-cleft lip syndrome is an extremely rare genetic condition that affects the development of the skull, face, and other parts of the body. The name describes its main features: microbrachycephaly (a small, short head), ptosis (drooping of the upper eyelids), and cleft lip (a gap or split in the upper lip). Children born with this syndrome may also have cleft palate, intellectual disability, and other facial differences such as a flat nasal bridge or widely spaced eyes. This condition is present from birth and is typically noticed right away due to the visible facial fea
How is Microbrachycephaly-ptosis-cleft lip syndrome inherited?
Microbrachycephaly-ptosis-cleft lip syndrome follows a autosomal recessive inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does Microbrachycephaly-ptosis-cleft lip syndrome typically begin?
Typical onset of Microbrachycephaly-ptosis-cleft lip syndrome is neonatal. Age of onset can vary across affected individuals.