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cataract-hypertrichosis-intellectual disability syndrome - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

cataract-hypertrichosis-intellectual disability syndrome

MONDO:0008894

Also known as:CAHMR syndromecataract, hypertrichosis, intellectual disability syndromecataract, hypertrichosis, mental retardation syndrome

Overview

Cataract-hypertrichosis-intellectual disability syndrome is characterized by congenital cataract, generalized hypertrichosis and intellectual deficit. It has been described in two Egyptian sibs born to consanguineous parents. It is transmitted as an autosomal recessive trait.

GeneticsAutosomal recessive

Clinical Presentation

Features include: Generalized hypertrichosis, Lamellar cataract, and Intellectual disability.

Organ System	Phenotype Count	Example Features
Eyes	1	Lamellar cataract
Brain and nerves	1	Intellectual disability

Explore clinical features

Diagnosis

Biomarker and diagnostic research for cataract-hypertrichosis-intellectual disability 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 cataract-hypertrichosis-intellectual disability syndrome.

203 publications have been identified in PubMed for cataract-hypertrichosis-intellectual disability syndrome. Kisho has analyzed 110 by research type. Research spans Review / Meta-Analysis (35%), Basic Science / Preclinical (22%), and Epidemiology / Natural History (22%).

Research Type	Count	% of Total
Research summaries	38	35%

Data assembled from 5 of 12 sources · Last updated Sep 20, 2026, 11:22 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:211770

Orphanet

European rare disease database

Orphanet:1375

GARD

Genetic and Rare Diseases Info Center

GARD:1052

Questions for Your Care Team

→Should my partner and I meet with a genetic counselor to discuss carrier status and family planning?
→Are there specialists or centers of excellence for this condition in my area?
→Is there a patient registry I should consider joining?

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cataract-hypertrichosis-intellectual disability syndrome

Overview

Clinical Presentation

Explore clinical features

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

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