Living with SHOX-related short stature
A genetic bone condition with short height, often short arms and legs, and typical development.
Understanding SHOX-related short stature
Height is well below the average for age, sex and population. Development is typical and growth hormone levels are normal. Arms and legs may be short compared with the trunk. X-rays may show changes at the wrist like those in a related condition. Madelung deformity (a wrist difference) may develop later or never. Signs start in the newborn and infant period.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Short stature
- Shorter forearms and lower legs
- Madelung deformity of the wrist
- Knock knees
- Scoliosis
- Short neck or short feet
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 SHOX 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
- 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
GARD lists changes in the SHOX gene. It is inherited in an autosomal dominant pattern, meaning one changed copy of the gene is enough.
Also known as: short stature, idiopathic familial; short stature, idiopathic, x-linked
Patient organizations
- Little People of AmericaSHOX-related short stature · United States
You are more than your diagnosis
Perspectives from people navigating life with SHOX-related short stature.
Explore research for SHOX-related short stature
Explore actively recruiting SHOX-related short stature studies with HealthSpark.
Find actively recruiting studies for SHOX-related short stature with HealthSpark. Share your city to explore research near you.
- Recruiting studies from ClinicalTrials.gov
- Share your city to look for research near you
- Eligibility is confirmed by the study team
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Powered by HealthSpark, our AI chat helper · Study information from ClinicalTrials.gov · Eligibility is confirmed by the study team.
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