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brachydactyly type E2 (BDE2) - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

brachydactyly type E2

MONDO:0013244

Also known as:BDE2PTHLH brachydactyly type Ebrachydactyly type E caused by mutation in PTHLH

Overview

Any brachydactyly type E in which the cause of the disease is a mutation in the PTHLH gene.

GeneticsAutosomal dominant · PTHLH (chr 12)

ResearchLimited published research (3 articles)

Clinical Presentation

Features include sometimes findings: Delayed eruption of teeth and Oligodontia. 6 total HPO annotations.

Organ System	Phenotype Count	Example Features
Growth and development	1	Short stature

Explore clinical features

Genetic Landscape

PTHLH function has not been fully characterized.

Brachydactyly type E2 is associated with mutations in the PTHLH gene on chromosome 12.

Diagnosis

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

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 E2.

3 publications have been identified in PubMed for brachydactyly type E2. Research spans Basic Science / Preclinical (67%) and Review / Meta-Analysis (33%).

Recent Publications

Wang X (2025). [PMID: 40589517](https://pubmed.ncbi.nlm.nih.gov/40589517/). *Front Endocrinol (Lausanne)*. [Basic Science / Preclinical]
Zhu S (2024). [PMID: 38956429](https://pubmed.ncbi.nlm.nih.gov/38956429/). *Cell Discov*. [Review / Meta-Analysis]
Andersen RE (2024). [PMID: 38946951](https://pubmed.ncbi.nlm.nih.gov/38946951/). *medRxiv*. [Basic Science / Preclinical]

Data assembled from 5 of 12 sources · Last updated Sep 17, 2026, 7:49 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:613382

GARD

Genetic and Rare Diseases Info Center

GARD:15654

Questions for Your Care Team

→Should I pursue genetic testing for PTHLH, 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 E2

Overview

Clinical Presentation

Explore clinical features

Genetic Landscape

Diagnosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team