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intellectual disability-polydactyly-uncombable hair syndrome - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

intellectual disability-polydactyly-uncombable hair syndrome

MONDO:0017682

Also known as:Kozlowski-Krajewska syndromeintellectual disability, postaxial polydactyly, phalangeal hypoplasia, 2-3 toe syndactyly, unusual face, uncombable hairmental retardation, postaxial polydactyly, phalangeal hypoplasia, 2-3 toe syndactyly, unusual face, uncombable hair

Overview

Intellectual disability-polydactyly-uncombable hair syndrome is a multiple congenital anomalies/dysmorphic syndrome characterized by intellectual disability, postaxial polydactyly, phalangeal hypoplasia, 2-3 toe syndactyly, uncombable hair and facial dysmorphism (including frontal bossing, hypotelorism, narrow palpebral fissures, nasal bridge and lips, prominent nasal root, large abnormal ears with prominent antihelix, poorly folded helix, underdeveloped lobule and antitragus, and micrognathia evolving into prognatism). Cryptorchidism, conductive hearing loss and progressive thoracic kyphosis were also reported.

Diagnosis

Biomarker and diagnostic research for intellectual disability-polydactyly-uncombable hair syndrome has been reported in the published literature.

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 intellectual disability-polydactyly-uncombable hair syndrome.

152 publications have been identified in PubMed for intellectual disability-polydactyly-uncombable hair syndrome. Research spans Review / Meta-Analysis (56%), Case Report / Case Series (18%), and Basic Science / Preclinical (15%).

Research Type	Count	% of Total
Research summaries	85	56%

Data assembled from 3 of 12 sources · Last updated Sep 20, 2026, 5:32 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

Orphanet

European rare disease database

Orphanet:3082

GARD

Genetic and Rare Diseases Info Center

GARD:3141

Questions for Your Care Team

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intellectual disability-polydactyly-uncombable hair syndrome

Overview

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

Orphanet

GARD

Related Diseases

Questions for Your Care Team

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