Overview
Microcephaly-cleft palate-abnormal retinal pigmentation syndrome is an extremely rare genetic condition that affects several parts of the body at the same time. The three main features are microcephaly (a head that is smaller than expected), a cleft palate (an opening in the roof of the mouth), and unusual pigmentation patterns in the retina (the light-sensing tissue at the back of the eye). Because the brain is smaller than typical, children with this condition often experience intellectual disability and developmental delays. The cleft palate can cause difficulties with feeding, speech, and hearing. The abnormal retinal pigmentation may affect vision to varying degrees. This syndrome was first described in a small number of families, and very few cases have been reported in the medical literature. Because it is so rare, the full range of symptoms and the natural course of the disease are not completely understood. Some affected individuals may also have short stature, seizures, or other neurological problems. There is currently no cure for this condition. Treatment focuses on managing each symptom individually. Surgical repair of the cleft palate is typically performed in infancy. Children benefit from early intervention programs including speech therapy, occupational therapy, and special education support. Regular eye examinations are important to monitor vision. A team of specialists working together provides the best care for affected individuals and their families.
Key symptoms:
Abnormally small head (microcephaly)Opening in the roof of the mouth (cleft palate)Unusual pigmentation in the back of the eyeIntellectual disabilityDelayed developmentFeeding difficulties in infancySpeech problemsShort statureVision problemsPossible seizuresHearing difficultiesLearning challenges
Clinical phenotype terms (12)— 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 Microcephaly-cleft palate-abnormal retinal pigmentation syndrome.
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Specialists
View all specialists →No specialists are currently listed for Microcephaly-cleft palate-abnormal retinal pigmentation 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 Microcephaly-cleft palate-abnormal retinal pigmentation syndrome.
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Caregiver Resources
NORD Caregiver Resources
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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 severity of my child's microcephaly, and what does brain imaging show?,When should cleft palate repair surgery be scheduled, and what can we expect?,How will the abnormal retinal pigmentation affect my child's vision over time?,What early intervention therapies should we start right away?,Should we pursue genetic testing such as whole exome sequencing to look for a specific cause?,Are there any signs of seizures we should watch for at home?,What is the chance that future children could also be affected?
Common questions about Microcephaly-cleft palate-abnormal retinal pigmentation syndrome
What is Microcephaly-cleft palate-abnormal retinal pigmentation syndrome?
Microcephaly-cleft palate-abnormal retinal pigmentation syndrome is an extremely rare genetic condition that affects several parts of the body at the same time. The three main features are microcephaly (a head that is smaller than expected), a cleft palate (an opening in the roof of the mouth), and unusual pigmentation patterns in the retina (the light-sensing tissue at the back of the eye). Because the brain is smaller than typical, children with this condition often experience intellectual disability and developmental delays. The cleft palate can cause difficulties with feeding, speech, and
How is Microcephaly-cleft palate-abnormal retinal pigmentation syndrome inherited?
Microcephaly-cleft palate-abnormal retinal pigmentation syndrome follows a autosomal recessive inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does Microcephaly-cleft palate-abnormal retinal pigmentation syndrome typically begin?
Typical onset of Microcephaly-cleft palate-abnormal retinal pigmentation syndrome is neonatal. Age of onset can vary across affected individuals.