Living with Mesomelic dwarfism-cleft palate-camptodactyly syndrome
A rare inherited syndrome from birth with short, bowed limbs, bent fingers, skin dimples, and a cleft palate.
Understanding Mesomelic dwarfism-cleft palate-camptodactyly syndrome
The middle parts of the arms and legs are short and bowed. Other features include a cleft palate, a small, receding lower jaw, and skin dimpling. It was described in a brother and sister born to parents who were related by blood. It is present from birth.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Short, bowed arms and legs (mesomelia)
- Cleft palate
- Fingers that stay bent (camptodactyly)
- Skin dimples
- Small, receding chin
- Underdeveloped lungs
Not everyone has every symptom. GARD's list comes from the Human Phenotype Ontology.
Diagnosis
- 1Talk with your doctor
Share the symptoms you've noticed, when they started and your family health history. Notes and photos can help.
- 2See a specialist
Specialists who may be involved include bone and joint specialists, ear, nose, and throat specialists and genetic specialists.
- 3Ask which tests can help
Your care team will decide which exams and tests can confirm the diagnosis.
- 4Connect with expert centers
Little People of America and World Craniofacial Foundation may keep lists of experts for this condition.
Care & treatment
- Care team
- Bone and joint specialists (orthopedists or orthopedic surgeons); Ear, nose, and throat specialists (otolaryngologists); Genetic specialists (geneticists)
- Expert care
- Expert lists: Little People of America, World Craniofacial Foundation
- Treatment
- GARD doesn't list specific treatments for this condition. Your care team will tailor care to your symptoms.
- Research
- Clinical trials and observational studies may be options. See the research section below.
General information, not medical advice. Your care team makes the decisions.
Everyday life
Living with a rare condition is easier with support.
- Connect with Little People of America and other patient organizations
- Keep notes on symptoms, changes and questions for appointments
- Ask about patient registries that help research
- Look into financial aid and travel resources for care visits
Quick facts
Changes in genes (also called variants) cause this condition. It is autosomal recessive, meaning a child inherits a changed copy of the gene from each parent.
Also known as: kozlowski-reardon mesomelic displasia; mesomelic dysplasia, kozlowski-reardon type; mesomelic dysplasia, reardon type; mesomelic limb shortening and bowing; reardon-hall-slaney syndrome
Patient organizations
- Little People of AmericaMesomelic dwarfism-cleft palate-camptodactyly syndrome · United States
- World Craniofacial FoundationCraniofacial anomalies · United States
- Children's Craniofacial AssociationCraniofacial anomalies · United States
- FACES: The National Craniofacial AssociationCraniofacial anomalies · United States
- myFaceCraniofacial anomalies · United States
You are more than your diagnosis
Perspectives from people navigating life with Mesomelic dwarfism-cleft palate-camptodactyly syndrome.
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