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brachydactyly type A1 (BDA1) - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

brachydactyly type A1

MONDO:0007215

Also known as:BDA1Farabee type brachydactylybrachydactyly, Farabee type

Overview

A rare, congenital limb malformation characterized by shortened or underdeveloped middle phalanges of all digits, that are sometimes fused with the terminal phalanges. The proximal phalanges of the thumbs and big toes are also shortened. Short stature in adulthood has been reported in association.

GeneticsAutosomal dominant · IHH (chr 2)

ResearchLimited published research (4 articles)

Clinical Presentation

Built from Human Phenotype Ontology (HPO) phenotype annotations and GeneReviews clinical descriptions. Features represent findings documented across known cases — not an exhaustive list of possible symptoms.

Features include: Short palm, Short stature, Brachydactyly, and Absent distal interphalangeal creases and 17 more.

Organ System	Phenotype Count	Example Features
Arms and legs	10	Aplasia/Hypoplasia of the middle phalanges of the toes, Radial deviation of the 3rd finger, Short distal phalanx of finger

Genetic Landscape

Assembled from HGNC gene records, ClinGen gene-disease validity evidence, and ClinVar pathogenic variant data. Validity classifications reflect the strength of published evidence linking each gene to this disease.

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).

Brachydactyly type A1 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.

Diagnosis

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

Prognosis

Estimated prevalence: Unknown (Unknown prevalence).

Research Landscape

Sourced from ClinicalTrials.gov and PubMed. Publication types are classified using NLM-curated article metadata; research type breakdowns reflect the nature of published work for this disease.

No clinical trials have been registered for brachydactyly type A1.

4 publications have been identified in PubMed for brachydactyly type A1. Research spans Case Report / Case Series (50%) and Basic Science / Preclinical (50%).

Recent Publications

Saeed T (2025). [PMID: 40045933](https://pubmed.ncbi.nlm.nih.gov/40045933/). *Mol Genet Genomic Med*. [Case Report / Case Series]
Zhu T (2025). [PMID: 40606564](https://pubmed.ncbi.nlm.nih.gov/40606564/). *Phenomics*. [Basic Science / Preclinical]
Díaz-González F (2024). [PMID: 38917024](https://pubmed.ncbi.nlm.nih.gov/38917024/). *Eur J Endocrinol*. [Basic Science / Preclinical]
Chen Y (2024). [PMID: 38840672](https://pubmed.ncbi.nlm.nih.gov/38840672/). *Transl Pediatr*. [Case Report / Case Series]

Data assembled from 6 of 12 sources · Last updated Sep 20, 2026, 1:00 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:112500

Orphanet

European rare disease database

Orphanet:93388

GARD

Genetic and Rare Diseases Info Center

GARD:978

Questions for Your Care Team

→Should I pursue genetic testing for IHH, and what would the results mean for my family?
→Are there specialists or centers of excellence for this condition in my area?
→Is there a patient registry I should consider joining?

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brachydactyly type A1

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

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