Overview
Cleft palate-short stature-vertebral anomalies syndrome is an extremely rare genetic condition that affects several parts of the body at the same time. The three main features are a cleft palate (an opening in the roof of the mouth), short stature (being significantly shorter than expected for age), and abnormalities of the bones in the spine (vertebral anomalies). Children born with this condition may also have other skeletal problems and distinctive facial features. The cleft palate can cause difficulties with feeding in infancy, speech development, and may lead to frequent ear infections. Short stature becomes more apparent as the child grows, and the vertebral anomalies can vary in severity, sometimes leading to scoliosis (curvature of the spine) or other spinal problems. Some affected individuals may also have mild intellectual differences, though this is not always the case. Because this syndrome is so rare, there is no single cure. Treatment focuses on managing each symptom individually. Surgical repair of the cleft palate is typically performed in infancy. Growth may be monitored by an endocrinologist, and orthopedic care may be needed for spinal issues. Speech therapy and regular hearing assessments are also important parts of care. A team of specialists working together provides the best outcomes for affected individuals.
Also known as:
Key symptoms:
Opening in the roof of the mouth (cleft palate)Short stature or growth delayAbnormally shaped bones in the spineCurvature of the spine (scoliosis)Feeding difficulties in infancySpeech problemsFrequent ear infectionsHearing lossDistinctive facial featuresDelayed motor developmentSkeletal abnormalities beyond the spine
Clinical phenotype terms (11)— 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-short stature-vertebral anomalies syndrome.
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Specialists
View all specialists →No specialists are currently listed for Cleft palate-short stature-vertebral anomalies 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-short stature-vertebral anomalies 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?,Should my child be evaluated for growth hormone therapy?,How often should my child's spine be monitored with imaging?,What genetic testing would you recommend for our family?,When should speech therapy begin, and how often should it occur?,Are there any signs of complications I should watch for at home?,What is the long-term outlook for my child's growth and development?
Common questions about Cleft palate-short stature-vertebral anomalies syndrome
What is Cleft palate-short stature-vertebral anomalies syndrome?
Cleft palate-short stature-vertebral anomalies syndrome is an extremely rare genetic condition that affects several parts of the body at the same time. The three main features are a cleft palate (an opening in the roof of the mouth), short stature (being significantly shorter than expected for age), and abnormalities of the bones in the spine (vertebral anomalies). Children born with this condition may also have other skeletal problems and distinctive facial features. The cleft palate can cause difficulties with feeding in infancy, speech development, and may lead to frequent ear infections.
How is Cleft palate-short stature-vertebral anomalies syndrome inherited?
Cleft palate-short stature-vertebral anomalies syndrome follows a autosomal recessive inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does Cleft palate-short stature-vertebral anomalies syndrome typically begin?
Typical onset of Cleft palate-short stature-vertebral anomalies syndrome is neonatal. Age of onset can vary across affected individuals.