Acromesomelic dysplasia Hunter Thompson type
Don’t fight Acromesomelic dysplasia Hunter Thompson type alone.
Find your community on the free RareGuru App.Connect with other caregivers and patients with Acromesomelic dysplasia Hunter Thompson type and get the support you need.
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.
Orpha Number: 968
Definition
A rare autosomal recessive acromesomelic dysplasia characterized by severe dwarfism (adult height approximately 120 cm) with abnormalities limited to the limbs (affecting the lower limbs more than upper limbs, with middle and distal segments being the most affected), severe shortening, absence or fusion of tubular bones of hands and feet and large joint dislocations. As seen in acromesomelic dysplasia, Grebe type and acromesomelic dysplasia, Maroteaux type, facial features and intelligence are normal.
Visit the Orphanet disease page for more resources.
Source: GARD Last updated on 05-01-20
Symptoms
Symptoms and their Known Frequencies
80%-99% of people have these symptoms.
Click on a symptom to see definitions for associated terms.
30%-79% of people have these symptoms.
Click on a symptom to see definitions for associated terms.
An unknown % of people have these symptoms.
Click on a symptom to see definitions for associated terms.
Connect with other users with Acromesomelic dysplasia Hunter Thompson type on the RareGuru app
Do you have information about a disease, disorder, or syndrome? Want to suggest a symptom?
Please send suggestions to RareGuru!
