Features include always present findings: Brachydactyly, Short stature, Short femoral neck, and Broad nail and others; and common findings: Excessive inward curve of the lower back (lumbar hyperlordosis), Narrow chest, Cupped ribs, and Radial bowing. 46 total HPO annotations.

IHH encodes Indian hedgehog signaling molecule (411 aa). Plays a role in embryonic morphogenesis; it is involved in the regulation of endochondral skeleton formation, and the development of retinal pigment epithelium (RPE), photoreceptors and periocular tis... Highest expression in Colon Transverse (30.7 TPM) and Small Intestine Terminal Ileum (15.4 TPM).

Acrocapitofemoral dysplasia is associated with mutations in the IHH gene on chromosome 2.

The IHH protein participates in IHH gene transcription is stimulated by RUNX2 pathway.

IHH is classified as a druggable target (Druggable Genome and Protease categories) with score 5.0.

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

Phenotype severity distribution: 9 always present features, 4 common features.

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

No clinical trials have been registered for acrocapitofemoral dysplasia.

4 publications have been identified in PubMed for acrocapitofemoral dysplasia. Research spans Review / Meta-Analysis (25%), Case Report / Case Series (25%), and Basic Science / Preclinical (25%).

Recent Publications

• Njie R (2025). [PMID: 40857061](https://pubmed.ncbi.nlm.nih.gov/40857061/). *Journal of cellular and molecular medicine*. [Review / Meta-Analysis]

• Nair P (2025). [PMID: 40771183](https://pubmed.ncbi.nlm.nih.gov/40771183/). *Molecular syndromology*. [Case Report / Case Series]

• Saeed T (2025). [PMID: 40045933](https://pubmed.ncbi.nlm.nih.gov/40045933/). *Molecular genetics &amp; genomic medicine*. [Gene Therapy / Novel Therapeutics]

• Zhu T (2025). [PMID: 40606564](https://pubmed.ncbi.nlm.nih.gov/40606564/). *Phenomics (Cham, Switzerland)*. [Basic Science / Preclinical]