Features include always present findings: Acromesomelia; and common findings: Postaxial hand polydactyly. 22 total HPO annotations.

GDF5 encodes growth differentiation factor 5 (501 aa). Growth factor involved in bone and cartilage formation. During cartilage development regulates differentiation of chondrogenic tissue through two pathways. Highest expression in Cells Cultured fibroblasts (7.0 TPM) and Minor Salivary Gland (4.0 TPM).

Acromesomelic dysplasia 2A is associated with mutations in the GDF5 gene on chromosome 20.

The GDF5 protein participates in Signaling by BMP pathway.

GDF5 is classified as a druggable target (Druggable Genome, Growth Factor, and Transcription Factor categories) with score 0.0.

Genetic testing for GDF5 is available. Testing is considered confirmatory for diagnosis.

Phenotype severity distribution: 1 always present feature, 1 common feature.

Estimated prevalence: Unknown (Unknown prevalence).

No clinical trials have been registered for acromesomelic dysplasia 2A.

2 publications have been identified in PubMed for acromesomelic dysplasia 2A. Research spans Case Report / Case Series (50%) and Epidemiology / Natural History (50%).

Recent Publications

• Li X (2026). [PMID: 41507789](https://pubmed.ncbi.nlm.nih.gov/41507789/). *BMC genomics*. [Epidemiology / Natural History]

• Abdelrazek IM (2024). [PMID: 39441036](https://pubmed.ncbi.nlm.nih.gov/39441036/). *Molecular genetics & genomic medicine*. [Case Report / Case Series]