Living with Hypochondroplasia
A genetic form of short-limbed short stature that is milder than achondroplasia.
Understanding Hypochondroplasia
It is similar to achondroplasia but features tend to be milder. All people have short stature. Adult men are about 138 to 165 cm (4 feet 6 inches to 5 feet 5 inches), and adult women are about 128 to 151 cm (4 feet 2 inches to 4 feet 11 inches). Features include short arms and legs, broad short hands and feet, and bowed legs. There is a small increased risk of temporal lobe epilepsy.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Short stature
- Short arms and legs
- Short fingers and toes
- Bowed legs
- Loose, double-jointed joints
- Limited elbow movement
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 FGFR3 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 FGFR3 gene cause this condition. It is autosomal dominant, meaning one changed copy of the gene can be enough to cause it.
Also known as: hch; hypochondrodysplasia
Patient organizations
- Little People of AmericaHypochondroplasia · United States
- Human Growth FoundationHypochondroplasia · United States
- The MAGIC FoundationHypochondroplasia · United States
You are more than your diagnosis
Perspectives from people navigating life with Hypochondroplasia.
Explore research for Hypochondroplasia
Explore actively recruiting Hypochondroplasia studies with HealthSpark.
Find actively recruiting studies for Hypochondroplasia 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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