Living with Achondroplasia
The most common form of short-limbed dwarfism, with short arms and legs, a larger head, and normal intelligence.
Understanding Achondroplasia
Everyone with it has short stature. Without treatment, adult males average 4 feet 4 inches and adult females average 4 feet 1 inch. The trunk is average size, but the arms and legs are short, and the head is larger with a prominent forehead. People are generally of normal intelligence. Ear infections and weight gain are common. Spinal stenosis can develop with age. GARD lists onset as during pregnancy and as a newborn.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Disproportionately short stature
- Short arms and legs
- Larger head (macrocephaly)
- Bowed legs
- Narrow spinal canal (spinal stenosis)
- Hearing loss and ear problems
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, so one changed copy of the gene is enough.
Also known as: ach; achondroplastic dwarf; achondroplastic dwarfism; achondroplastic physique; chondrodystrophia; chondrodystrophia fetalis
Patient organizations
- Little People of AmericaAchondroplasia · United States
- Human Growth FoundationAchondroplasia · United States
- The MAGIC FoundationAchondroplasia · United States
You are more than your diagnosis
Perspectives from people navigating life with Achondroplasia.
Explore research for Achondroplasia
Explore actively recruiting Achondroplasia studies with HealthSpark.
Find actively recruiting studies for Achondroplasia 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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