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hypertrichosis cubiti-short stature syndrome - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

hypertrichosis cubiti-short stature syndrome

MONDO:0007693

Also known as:MacDermot-Patton-Williams syndromehairy elbowshairy elbows syndrome

Overview

Hypertrichosis cubiti is a rare hair anomaly characterized by symmetrical, congenital or early-onset, bilateral hypertrychosis localized on the externsor surfaces of the upper extremities (especially the elbows). Short stature, or other abnormalities, such as developmental delay, facial anomalies and intellectual disability, may or may not be associated.

GeneticsAutosomal dominant

ResearchLimited published research (2 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 common findings: Short stature; and sometimes findings: Abnormal facial shape. 3 total HPO annotations.

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

Prognosis

Phenotype severity distribution: 1 common feature.

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 hypertrichosis cubiti-short stature syndrome.

2 publications have been identified in PubMed for hypertrichosis cubiti-short stature syndrome. Research spans Review / Meta-Analysis (50%) and Case Report / Case Series (50%).

Recent Publications

Hirai S (2026). [PMID: 41844570](https://pubmed.ncbi.nlm.nih.gov/41844570/). *Hum Genome Var*. [Case Report / Case Series]
Manav Yiğit Z (2026). [PMID: 41320952](https://pubmed.ncbi.nlm.nih.gov/41320952/). *Balkan Med J*. [Review / Meta-Analysis]

Data assembled from 5 of 12 sources · Last updated Sep 17, 2026, 10:46 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:139600

Orphanet

European rare disease database

Orphanet:2220

GARD

Genetic and Rare Diseases Info Center

GARD:143

Questions for Your Care Team

→Are there specialists or centers of excellence for this condition in my area?
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hypertrichosis cubiti-short stature syndrome

Overview

Clinical Presentation

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

Orphanet

GARD

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Questions for Your Care Team

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