Living with Kyphomelic dysplasia
A skeletal condition present before birth with short stature, a narrow chest, and short, bowed arms and legs.
Understanding Kyphomelic dysplasia
People have a short, narrow chest, shortened and bending limbs, flared bone ends (metaphyses), and distinctive facial features. Bone changes are said to improve with age. GARD notes that recent studies suggest it is no longer its own condition, and individual cases should be re-evaluated and re-classified as another condition, such as Schwartz-Jampel syndrome. It starts during pregnancy or in newborns.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Short stature with short limbs
- Short, narrow chest
- Bowed arm and leg bones
- Stiff joints
- Small lower jaw (micrognathia)
- Wavy or missing ribs
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 and genetic specialists.
- 3Consider genetic testing
Changes in CCN2 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); Genetic specialists (geneticists)
- 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
Changes in the CCN2 gene are listed. It is autosomal recessive, meaning a child inherits a changed copy of the gene from each parent.
Also known as: kmd
Patient organizations
- Little People of AmericaKyphomelic dysplasia · United States
You are more than your diagnosis
Perspectives from people navigating life with Kyphomelic dysplasia.
Explore research for Kyphomelic dysplasia
Explore actively recruiting Kyphomelic dysplasia studies with HealthSpark.
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- Recruiting studies from ClinicalTrials.gov
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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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