Living with Camptomelic dysplasia
A condition that mainly affects how the bones, reproductive system, and other body parts form before birth.
Understanding Camptomelic dysplasia
The name comes from Greek words for "bent limb." Babies are typically born with bowed leg bones, and sometimes bowed arm bones. Many also have short legs, dislocated hips, a small chin, a flat face, and a large head for their body size. Bone changes begin before birth and can often be seen on ultrasound.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Bowed leg bones, sometimes with skin dimples
- Dislocated hips
- Clubfeet (feet turned inward and upward)
- 11 pairs of ribs instead of 12
- Cleft palate and a small lower jaw
- External genitalia that may not look clearly male or female
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, brain and nervous system specialists, genetic specialists and hormone specialists.
- 3Consider genetic testing
Changes in SOX9 are linked to this condition. Genetic testing and counseling can help confirm a diagnosis and explain what it means for your family.
- 4Connect with expert centers
Little People of America may keep lists of experts for this condition.
Care & treatment
- Care team
- Bone and joint specialists (orthopedists or orthopedic surgeons); Brain and nervous system specialists (neurologists); Genetic specialists (geneticists); Hormone specialists (endocrinologists)
- Expert care
- Expert lists: Little People of America
- 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
- 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
Campomelic dysplasia is linked to changes in the SOX9 gene. It is inherited in an autosomal dominant way, which means one changed copy of the gene can cause the condition.
Also known as: campomelic dwarfism; campomelic dysplasia; campomelic syndrome; cmd; cmpd; cmpd1/sra1
Patient organizations
- Little People of AmericaCamptomelic dysplasia · United States
You are more than your diagnosis
Perspectives from people navigating life with Camptomelic dysplasia.
Explore research for Camptomelic dysplasia
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- Eligibility is confirmed by the study team
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Powered by HealthSpark, our AI chat helper · Study information from ClinicalTrials.gov · Eligibility is confirmed by the study team.
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