Living with Otospondylomegaepiphyseal dysplasia
An inherited bone condition with short legs, severe high-pitched hearing loss, distinct facial features, and cleft palate.
Understanding Otospondylomegaepiphyseal dysplasia
The name refers to the ears, the spine bones, and the enlarged ends (epiphyses) of long bones. It overlaps with Weissenbacher-Zweymuller syndrome and Stickler syndrome type III, which involve the same gene. People are often shorter than average because leg bones are short. Back and joint pain and arthritis may start early. Almost all babies are born with cleft palate. GARD lists onset as during pregnancy and as a newborn.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Severe high-pitched hearing loss
- Cleft palate
- Short stature with short limbs
- Enlarged, painful joints and early arthritis
- Flattened spine bones (platyspondyly)
- Small lower jaw and flat nose bridge
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 COL11A2 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 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 COL11A2 gene cause this condition. It is inherited in an autosomal recessive way, meaning a child inherits a changed copy of the gene from each parent.
Also known as: chondrodystrophy with sensorineural deafness; nance-insley syndrome; nance-sweeney chondrodysplasia; osmed; otospondylmegaepiphyseal dysplasia
Patient organizations
- Little People of AmericaOtospondylomegaepiphyseal dysplasia · United States
- Human Growth FoundationOtospondylomegaepiphyseal dysplasia · United States
You are more than your diagnosis
Perspectives from people navigating life with Otospondylomegaepiphyseal dysplasia.
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