Features include very common findings: Brachydactyly and Fibular aplasia; and common findings: Small nail, Rhizomelia, Talipes equinovalgus, and Short metacarpal and others. 15 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 2B 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: 2 very common features, 11 common features.

Estimated prevalence: <1 in 1,000,000 (VERY_RARE).

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

2 publications have been identified in PubMed for acromesomelic dysplasia 2B. Kisho has analyzed 1 by research type. Research spans Case Report / Case Series (100%).

Recent Publications

• Abdelrazek IM (2024). [PMID: 39441036](https://pubmed.ncbi.nlm.nih.gov/39441036/). *Mol Genet Genomic Med*. [Case Report / Case Series]