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humerus trochlea aplasia - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

humerus trochlea aplasia

MONDO:0008611

Also known as:aplasia of trochlea of the humerustrochlea of the HUMERUS, aplasia OFtrochlea of the humerus aplasia of

Overview

Humerus trochlea aplasia is an extremely rare familial bone deformity described only in Japanese patients to date. The deformity is bilateral in nearly half of patients (with bilateral involvement, the condition is symmetrical) and sometimes causes ulnar nerve palsy or cubitus varus.

GeneticsAutosomal dominant

ResearchLimited published research (1 article)

Clinical Presentation

Features include: Cleft palate and Short humerus.

Organ System	Phenotype Count	Example Features
Head and neck	1	Cleft palate

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Prognosis

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

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 humerus trochlea aplasia.

1 publication has been identified in PubMed for humerus trochlea aplasia. Research spans Basic Science / Preclinical (100%).

Recent Publications

Libberecht K (2025). [PMID: 39397393](https://pubmed.ncbi.nlm.nih.gov/39397393/). *J Hand Surg Eur Vol*. [Basic Science / Preclinical]

Data assembled from 5 of 12 sources · Last updated Sep 19, 2026, 12:49 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:191000

Orphanet

European rare disease database

Orphanet:3383

GARD

Genetic and Rare Diseases Info Center

GARD:2750

Questions for Your Care Team

→Are there specialists or centers of excellence for this condition in my area?
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humerus trochlea aplasia

Overview

Clinical Presentation

Explore clinical features

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team