acromesomelic dysplasia 2C, Hunter-Thompson type
Findings
No curated finding names acromesomelic dysplasia 2C, Hunter-Thompson type yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Acromesomelic dysplasia, Hunter-Thomson type is an autosomal recessively inherited form of 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.
Definition from the Mondo Disease Ontology (MONDO:0008717), read 2026-09-29. CC BY 4.0.
Features
18 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Abnormal speech patternHPOHP:0002167
- Very frequent (80% to 99% of cases)
- Abnormality of the ankleHPOHP:0003028
- Very frequent (80% to 99% of cases)
- AcromesomeliaHPOHP:0003086
- Very frequent (80% to 99% of cases)
- Bilateral single transverse palmar creasesHPOHP:0007598
- Very frequent (80% to 99% of cases)
- BrachydactylyHPOHP:0001156
- Very frequent (80% to 99% of cases)
- Elbow dislocationHPOHP:0003042
- Very frequent (80% to 99% of cases)
Show the remaining 6
- Cuboidal metacarpalHPOHP:0006011
- Frequent (30% to 79% of cases)
- Hip dislocationHPOHP:0002827
- Frequent (30% to 79% of cases)
- Joint stiffnessHPOHP:0001387
- Frequent (30% to 79% of cases)
- Patellar dislocationHPOHP:0002999
- Frequent (30% to 79% of cases)
- ScoliosisHPOHP:0002650
- Frequent (30% to 79% of cases)
- Short metacarpalHPOHP:0010049
- Frequent (30% to 79% of cases)
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- GDF5HGNC:4220
- Supportive · Orphanet · Autosomal recessive · 2021
Where it sits
- A kind of
Other names
2 names
Resolves to: acromesomelic dysplasia 2C, Hunter-Thompson type
- Also called
- acromesomelic dwarfismacromesomelic dysplasia, Hunter-Thompson type