Living with Spondylometaphyseal dysplasia - Sutcliffe type
A genetic bone condition with short stature, a waddling walk, limited joint movement, and chronic pain.
Understanding Spondylometaphyseal dysplasia - Sutcliffe type
Short stature may be present at birth or develop in early infancy. People may have short limbs, a short trunk, or both. X-rays show wide bone ends with corner fracture-like lesions, shortened long bones, scoliosis, and spine changes. Limited joint movement and chronic pain are common. Vision impairment and glaucoma have been reported.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Short stature
- Waddling walk
- Limited joint movement
- Limb pain
- Curved spine (scoliosis)
- Knock knees or bow legs
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 FN1 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 FN1 gene cause this condition. It is autosomal dominant, meaning one changed copy of the gene can cause it.
Also known as: spondylometaphyseal dysplasia corner fracture type; spondylometaphyseal dysplasia, 'corner fracture' type; spondylometaphyseal dysplasia, sutcliffe type; sutcliffe smd; sutcliffe type of spondylometaphyseal dysplasia
Patient organizations
- Little People of AmericaSpondylometaphyseal dysplasia - Sutcliffe type · United States
- Kniest SED GroupSpondylometaphyseal dysplasia - Sutcliffe type · United States
You are more than your diagnosis
Perspectives from people navigating life with Spondylometaphyseal dysplasia - Sutcliffe type.
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