Living with Kniest dysplasia
A bone growth condition with short height, joint problems, and possible hearing and vision problems.
Understanding Kniest dysplasia
People are born with a short torso and short arms and legs. Adult height ranges from about 42 to 57 inches. Other bone differences include a rounded, curved upper back, flat spine bones, and clubfeet. Cartilage has tiny holes. Some babies have a cleft palate or breathing problems from a floppy windpipe. Enlarged, painful joints can lead to early arthritis. Many have hearing loss, severe nearsightedness, and may have retinal detachment.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Short stature with a short trunk
- Enlarged, painful joints
- Rounded or curved upper back (kyphoscoliosis)
- Cleft palate
- Hearing loss
- Severe nearsightedness and retinal problems
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.
- 3Consider genetic testing
Changes in COL2A1 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 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 the COL2A1 gene cause this condition. It is autosomal dominant, meaning one changed copy of the gene is enough to cause it.
Also known as: kniest chondrodystrophy; kniest syndrome; swiss cheese cartilage dysplasia
Patient organizations
- Little People of AmericaKniest dysplasia · United States
- Kniest SED GroupKniest dysplasia · 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 Kniest dysplasia.
Explore research for Kniest dysplasia
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