Overview
Mesomelic dwarfism-cleft palate-camptodactyly syndrome is an extremely rare genetic condition that affects bone growth and development. The term 'mesomelic dwarfism' means that the middle portions of the limbs (the forearms and lower legs) are shorter than normal, leading to short stature. In addition to the limb shortening, individuals with this syndrome are born with a cleft palate, which is an opening in the roof of the mouth, and camptodactyly, which refers to permanently bent fingers that cannot be fully straightened. These features are typically present at birth or recognized very early in life. Because this condition is so rare, with only a handful of cases described in the medical literature, our understanding of its full range of symptoms and long-term outcomes is limited. The skeletal abnormalities can affect mobility and daily function, while the cleft palate may cause difficulties with feeding, speech, and hearing if not treated. Treatment is primarily supportive and symptom-based. Surgical repair of the cleft palate is usually performed in infancy, and orthopedic care may be needed for the limb and hand abnormalities. Speech therapy, physical therapy, and occupational therapy can help improve function and quality of life. There is currently no cure or disease-modifying treatment available for this syndrome.
Also known as:
Key symptoms:
Short forearms and lower legs (mesomelic limb shortening)Short stature or dwarfismCleft palate (opening in the roof of the mouth)Permanently bent fingers (camptodactyly)Difficulty feeding as a newbornSpeech difficultiesHearing problems related to cleft palateLimited range of motion in the handsAbnormal bone development visible on X-raysPossible bowing of the forearm bones
Clinical phenotype terms (17)— 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 Mesomelic dwarfism-cleft palate-camptodactyly syndrome.
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Specialists
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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 Mesomelic dwarfism-cleft palate-camptodactyly syndrome.
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Caregiver Resources
NORD Caregiver Resources
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Family & Caregiver Grants
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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 best timing for cleft palate repair surgery for my child?,How will the shortened limbs affect my child's growth and mobility over time?,What therapies (speech, occupational, physical) should we start and when?,Should we pursue genetic testing such as whole exome sequencing to look for the cause?,How often should my child's hearing be tested?,Are there any orthopedic treatments that could help with the bent fingers or limb shortening?,What is the chance that future children could also have this condition?
Common questions about Mesomelic dwarfism-cleft palate-camptodactyly syndrome
What is Mesomelic dwarfism-cleft palate-camptodactyly syndrome?
Mesomelic dwarfism-cleft palate-camptodactyly syndrome is an extremely rare genetic condition that affects bone growth and development. The term 'mesomelic dwarfism' means that the middle portions of the limbs (the forearms and lower legs) are shorter than normal, leading to short stature. In addition to the limb shortening, individuals with this syndrome are born with a cleft palate, which is an opening in the roof of the mouth, and camptodactyly, which refers to permanently bent fingers that cannot be fully straightened. These features are typically present at birth or recognized very early
How is Mesomelic dwarfism-cleft palate-camptodactyly syndrome inherited?
Mesomelic dwarfism-cleft palate-camptodactyly syndrome follows a autosomal recessive inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does Mesomelic dwarfism-cleft palate-camptodactyly syndrome typically begin?
Typical onset of Mesomelic dwarfism-cleft palate-camptodactyly syndrome is neonatal. Age of onset can vary across affected individuals.