Living with Acromesomelic dysplasia 2C, Hunter-Thompson type
A rare bone condition with severe short stature, short and dislocated limb joints, and normal facial features.
Understanding Acromesomelic dysplasia 2C, Hunter-Thompson type
Adult height is around 120 cm. Differences are limited to the limbs, and the legs are affected more than the arms. The hand and foot bones can be very short, missing, or fused, and large joints can dislocate. Facial features are normal. 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 fingers and toes
- Hip, knee, or elbow dislocation
- Joint stiffness
- Scoliosis
- Fused ankle bones
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 GDF5 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
Changes in the GDF5 gene cause this condition. It is autosomal recessive, so a child inherits a changed copy of the gene from each parent.
Also known as: acromesomelic dysplasia hunter-thompson type; acromesomelic dysplasia, hunter-thompson type; hunter-thompson dysplasia
Patient organizations
- Little People of AmericaAcromesomelic dysplasia 2C, Hunter-Thompson type · United States
You are more than your diagnosis
Perspectives from people navigating life with Acromesomelic dysplasia 2C, Hunter-Thompson type.
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