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isolated familial wooly hair disorder - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

isolated familial wooly hair disorder

MONDO:0008686

Also known as:familial woolly hair syndromefamilial wooly hair syndromehereditary woolly hair syndrome

Overview

Woolly hair is a rare congenital abnormality of the structure of the scalp hair marked by extreme kinkiness of the hair.

ResearchLimited published research (3 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 very common findings: Fine hair, Woolly hair, Brittle hair, and Abnormality of hair texture; and common findings: Slow-growing hair and Hypopigmentation of hair. 12 total HPO annotations.

Organ System	Phenotype Count	Example Features
Eyes	3	Abnormal retinal morphology, Strabismus, Cataract

Explore clinical features

Prognosis

Phenotype severity distribution: 4 very common features, 2 common features.

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 isolated familial wooly hair disorder.

3 publications have been identified in PubMed for isolated familial wooly hair disorder. Research spans Review / Meta-Analysis (67%) and Basic Science / Preclinical (33%).

Recent Publications

Chen X (2025). [PMID: 41100400](https://pubmed.ncbi.nlm.nih.gov/41100400/). *J Dermatol*. [Basic Science / Preclinical]
Xie Y (2025). [PMID: 41426600](https://pubmed.ncbi.nlm.nih.gov/41426600/). *Front Med (Lausanne)*. [Review / Meta-Analysis]
Shimomura Y (2025). [PMID: 37407443](https://pubmed.ncbi.nlm.nih.gov/37407443/). *Keio J Med*. [Review / Meta-Analysis]

Data assembled from 4 of 12 sources · Last updated Sep 20, 2026, 10:56 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

Orphanet

European rare disease database

Orphanet:170

GARD

Genetic and Rare Diseases Info Center

GARD:5597

Questions for Your Care Team

→Are there specialists or centers of excellence for this condition in my area?
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isolated familial wooly hair disorder

Overview

Clinical Presentation

Explore clinical features

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team