Living with Achondrogenesis
A group of severe conditions that affect the development of cartilage and bone, with very short arms and legs and a narrow chest.
Understanding Achondrogenesis
There are three main types: 1A, 1B, and 2. They differ in genetic cause and inheritance, but share short arms and legs, a narrow chest, and underdeveloped lungs. Genetic testing and imaging are often needed to tell them apart. 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:
- Severe short stature
- Short arms and legs
- Narrow chest
- Underdeveloped lungs
- Extra amniotic fluid during pregnancy
- Skeletal dysplasia (abnormal bone growth)
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.
- 3Ask which tests can help
Your care team will decide which exams and tests can confirm the diagnosis.
- 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 says changes in genes (also called variants) cause this condition. The types are linked to the TRIP11, SLC26A2, and COL2A1 genes, and inheritance is listed as autosomal dominant or recessive.
Patient organizations
- Little People of AmericaAchondrogenesis · United States
You are more than your diagnosis
Perspectives from people navigating life with Achondrogenesis.
Explore research for Achondrogenesis
Explore actively recruiting Achondrogenesis studies with HealthSpark.
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- 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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