Overview
Spondyloepiphyseal dysplasia-craniosynostosis-cleft palate-cataracts-intellectual disability syndrome is an extremely rare genetic condition that affects multiple body systems. The name describes its main features: spondyloepiphyseal dysplasia refers to abnormal development of the bones in the spine and the ends of long bones (epiphyses), craniosynostosis means the bones of the skull fuse together too early, cleft palate is an opening in the roof of the mouth, cataracts cause clouding of the eye lenses, and intellectual disability affects learning and development. Children born with this condition typically have short stature due to the skeletal abnormalities, and the early fusion of skull bones can affect head shape and potentially increase pressure inside the skull. The combination of cleft palate and other facial differences can cause feeding difficulties in infancy and speech problems later. Cataracts may be present at birth or develop in early childhood, affecting vision. Because this syndrome is so rare, there is no specific cure. Treatment focuses on managing each symptom individually. This may include surgery for craniosynostosis and cleft palate, cataract removal to preserve vision, orthopedic care for skeletal problems, and educational support for intellectual disability. A team of specialists working together provides the best outcomes for affected individuals.
Also known as:
Key symptoms:
Short statureAbnormal spine developmentEarly fusion of skull bones (craniosynostosis)Opening in the roof of the mouth (cleft palate)Clouding of the eye lenses (cataracts)Intellectual disabilityAbnormal bone development at the ends of long bonesUnusual facial featuresFeeding difficulties in infancySpeech difficultiesDelayed developmental milestonesJoint problemsAbnormal head shape
Clinical phenotype terms (41)— 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 Spondyloepiphyseal dysplasia-craniosynostosis-cleft palate-cataracts-intellectual disability syndrome.
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Specialists
View all specialists →No specialists are currently listed for Spondyloepiphyseal dysplasia-craniosynostosis-cleft palate-cataracts-intellectual disability 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 Spondyloepiphyseal dysplasia-craniosynostosis-cleft palate-cataracts-intellectual disability 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 recommended timing for craniosynostosis surgery, and what are the risks?,How often should my child have eye exams to monitor the cataracts?,What therapies and early intervention services should we start right away?,Should we pursue genetic testing, and what might the results tell us about our family's risk?,What signs of complications should I watch for at home?,Are there specialized centers that have experience with this combination of conditions?,What educational supports and resources are available for my child's intellectual disability?
Common questions about Spondyloepiphyseal dysplasia-craniosynostosis-cleft palate-cataracts-intellectual disability syndrome
What is Spondyloepiphyseal dysplasia-craniosynostosis-cleft palate-cataracts-intellectual disability syndrome?
Spondyloepiphyseal dysplasia-craniosynostosis-cleft palate-cataracts-intellectual disability syndrome is an extremely rare genetic condition that affects multiple body systems. The name describes its main features: spondyloepiphyseal dysplasia refers to abnormal development of the bones in the spine and the ends of long bones (epiphyses), craniosynostosis means the bones of the skull fuse together too early, cleft palate is an opening in the roof of the mouth, cataracts cause clouding of the eye lenses, and intellectual disability affects learning and development. Children born with this cond
How is Spondyloepiphyseal dysplasia-craniosynostosis-cleft palate-cataracts-intellectual disability syndrome inherited?
Spondyloepiphyseal dysplasia-craniosynostosis-cleft palate-cataracts-intellectual disability syndrome follows a autosomal recessive inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does Spondyloepiphyseal dysplasia-craniosynostosis-cleft palate-cataracts-intellectual disability syndrome typically begin?
Typical onset of Spondyloepiphyseal dysplasia-craniosynostosis-cleft palate-cataracts-intellectual disability syndrome is neonatal. Age of onset can vary across affected individuals.