acromesomelic dysplasia 2A
Findings
No curated finding names acromesomelic dysplasia 2A yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
An autosomal recessively inherited form of acromesomelic dysplasia characterized by severe dwarfism at birth, abnormalities confined to limbs, severe shortening and deformity of long bones, fusion or absence of carpal and tarsal bones, ball shaped fingers and, occasionally, polydactyly and absent joints. As seen in acromesomelic dysplasia, Hunter-Thomson type and acromesomelic dysplasia, Maroteaux Type, facial features and intelligence are normal.
Definition from the Mondo Disease Ontology (MONDO:0008703), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Death in infancy · Congenital onset
HPO, annotations 2026-09-02
Features
22 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.
- AcromesomeliaHPOHP:0003086
- 1 of 1 reported patient
- Aplasia of the middle phalanges of the toesHPOHP:0100387
- Very frequent (80% to 99% of cases)
- Aplasia/Hypoplasia involving the metacarpal bonesHPOHP:0005914
- Very frequent (80% to 99% of cases)
- Bowing of the long bonesHPOHP:0006487
- Very frequent (80% to 99% of cases)
- BrachydactylyHPOHP:0001156
- Very frequent (80% to 99% of cases)
- Disproportionate short-limb short stature
Genes
2 genes
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
- Definitive · G2P · Autosomal recessive · 2025
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2021
- Moderate · Ambry Genetics · Autosomal recessive · 2018
- Supportive · Orphanet · Autosomal recessive · 2021
- BMPR1BHGNC:1077
- Supportive · Orphanet · Autosomal recessive · 2021
Where it sits
Other names
6 names
Resolves to: acromesomelic dysplasia 2A
- Also called
- acromesomelic dysplasia, Grebe typechondrodysplasia, Grebe typeGREBE chondrodysplasiaGrebe dysplasiaLanger-Saldino achondrogenesistype II achondrogenesis