Living with Otospondylomegaepiphyseal dysplasia, autosomal dominant
A dominant form of bone condition (Weissenbacher-Zweymuller syndrome) with short limbs at birth, hearing loss, and distinct facial features.
Understanding Otospondylomegaepiphyseal dysplasia, autosomal dominant
It overlaps with OSMED and Stickler syndrome type III. Babies are smaller than average, with short arm and leg bones and thigh and upper arm bones that are wide at the ends. Facial features include wide-set eyes, a small upturned nose with a flat bridge, and a small lower jaw. Some babies have cleft palate. Most people have catch-up growth in childhood, so adults are not unusually short. GARD lists newborn and infant years as the usual onset.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Hearing loss from the inner ear
- Cleft palate
- Small lower jaw
- Flattened cheekbones
- Joint pain and arthritis
- Tongue falling back (glossoptosis)
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 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
American Cleft Palate Craniofacial Association, The Marfan Foundation 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: American Cleft Palate Craniofacial Association, The Marfan Foundation, 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 American Cleft Palate Craniofacial Association 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 dominant way, meaning one changed copy of the gene can be enough.
Also known as: ad osmed; autosomal dominant otospondylomegaepiphyseal dysplasia; col11a2 stickler syndrome; col11a2-related stickler syndrome; heterozygous osmed; heterozygous otospondylomegaepiphyseal dysplasia
Patient organizations
- American Cleft Palate Craniofacial AssociationOtospondylomegaepiphyseal dysplasia, autosomal dominant · United States
- The Marfan FoundationOtospondylomegaepiphyseal dysplasia, autosomal dominant · United States
- Coalition for Heritable Disorders of Connective TissueOtospondylomegaepiphyseal dysplasia, autosomal dominant · 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 Otospondylomegaepiphyseal dysplasia, autosomal dominant.
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