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thumb deformity-alopecia-pigmentation anomaly syndrome - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

thumb deformity-alopecia-pigmentation anomaly syndrome

MONDO:0008562

Also known as:thumb deformity and alopeciacongenital deformity of the thumb and congenital alopeciahypotrichosis associated with congenital hypoplasia of the thumb

Overview

A rare, genetic, congenital limb malformation syndrome characterized by short stature, sparse scalp hair, hypoplastic, proximally-placed thumbs, and skin hyperpigmentation with areas of 'raindrop' depigmentation. Presence of a single, upper central incisor has also been reported. There have been no further descriptions in the literature since 1988.

GeneticsAutosomal dominant

ResearchLimited published research (1 article)

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: Alopecia, Short stature, Increased groin pigmentation with raindrop depigmentation, and Short thumb and 2 more.

Organ System	Phenotype Count	Example Features
Skin	1	Alopecia
Growth and development

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 thumb deformity-alopecia-pigmentation anomaly syndrome.

1 publication has been identified in PubMed for thumb deformity-alopecia-pigmentation anomaly syndrome. Research spans Review / Meta-Analysis (100%).

Recent Publications

Kuhlen M (2025). [PMID: 39641826](https://pubmed.ncbi.nlm.nih.gov/39641826/). *World J Pediatr*. [Review / Meta-Analysis]

Data assembled from 5 of 12 sources · Last updated Sep 18, 2026, 4:34 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:188150

Orphanet

European rare disease database

Orphanet:2251 Orphanet:79132

GARD

Genetic and Rare Diseases Info Center

GARD:5199

Questions for Your Care Team

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thumb deformity-alopecia-pigmentation anomaly 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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