Living with Spondyloepimetaphyseal dysplasia, Strudwick type
A rare bone condition with short stature from birth, short limbs, spine changes, and facial differences.
Understanding Spondyloepimetaphyseal dysplasia, Strudwick type
Limbs are short, and the spine may curve and have flattened bones. Bone changes can be seen on X-rays within the first year of life. Nearsightedness is common. Facial features include wide-set eyes and a flat face, and some people have Pierre Robin sequence, which includes a small lower jaw and a tongue that falls back. Some people have unstable neck bones.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Short stature with short limbs
- Curved spine and flattened spine bones
- Unstable neck bones (cervical instability)
- Nearsightedness (myopia)
- Wide-set eyes and flat face
- Hearing loss
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 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 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 COL2A1 gene cause this condition. It is autosomal dominant, meaning one changed copy of the gene can cause it.
Also known as: dappled metaphysis syndrome; semd - spondyloepimetaphyseal dysplasia, strudwick type; semdstwk; spondyloepimetaphyseal dysplasia congenita, strudwick type; strudwick syndrome
Patient organizations
- Little People of AmericaSpondyloepimetaphyseal dysplasia, Strudwick type · United States
- Kniest SED GroupSpondyloepimetaphyseal dysplasia, Strudwick type · United States
You are more than your diagnosis
Perspectives from people navigating life with Spondyloepimetaphyseal dysplasia, Strudwick type.
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