Features include very common findings: Short 3rd finger, Cone-shaped epiphyses of the middle phalanges of the hand, Pseudoepiphysis of the 2nd finger, and Short 2nd finger and others; and common findings: Short stature, Short middle phalanx of the 5th finger, Ulnar deviation of the 3rd finger, and Short 1st metacarpal and others. 34 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).

Brachydactyly type C 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: 5 very common features, 23 common features.

Estimated prevalence: Unknown (Unknown prevalence).

No clinical trials have been registered for brachydactyly type C.

2 publications have been identified in PubMed for brachydactyly type C. Research spans Case Report / Case Series (50%) and Epidemiology / Natural History (50%).

Recent Publications

• Chan PK (2025). [PMID: 40783902](https://pubmed.ncbi.nlm.nih.gov/40783902/). *Arch Osteoporos*. [Case Report / Case Series]

• Farhud DD (2024). [PMID: 39430143](https://pubmed.ncbi.nlm.nih.gov/39430143/). *Iran J Public Health*. [Epidemiology / Natural History]