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congenital muscular dystrophy-infantile cataract-hypogonadism syndrome - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

congenital muscular dystrophy-infantile cataract-hypogonadism syndrome

MONDO:0009680

Also known as:Bassoe syndromebenign muscular dystrophy with hypergonadotrophic hypogonadism and congenital cataractfamilial congenital muscular dystrophy with gonadal dysgenesis

Overview

Congenital muscular dystrophy-infantile cataract-hypogonadism syndrome is characterized by congenital muscular dystrophy, infantile cataract and hypogonadism. It has been described in seven individuals from an isolated Norwegian village and in one unrelated individual. Transmission appears to be autosomal recessive.

GeneticsAutosomal recessive

ResearchLimited published research (2 articles)

Clinical Presentation

Features include: Cataract, Progressive muscle deterioration (muscular dystrophy), and Hypogonadism.

Organ System	Phenotype Count	Example Features
Eyes	1	Cataract
Muscles	1	Progressive muscle deterioration (muscular dystrophy)
Hormones	1	Hypogonadism

Explore clinical features

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 congenital muscular dystrophy-infantile cataract-hypogonadism syndrome.

3 publications have been identified in PubMed for congenital muscular dystrophy-infantile cataract-hypogonadism syndrome. Kisho has analyzed 2 by research type. Research spans Review / Meta-Analysis (50%) and Epidemiology / Natural History (50%).

Recent Publications

Janáky M (2025). [PMID: 39846623](https://pubmed.ncbi.nlm.nih.gov/39846623/). *Vision (Basel)*. [Review / Meta-Analysis]
Idárraga GDO (2025). [PMID: 40080775](https://pubmed.ncbi.nlm.nih.gov/40080775/). *JBRA Assist Reprod*. [Epidemiology / Natural History]

Data assembled from 5 of 12 sources · Last updated Sep 20, 2026, 1:08 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:254000

Orphanet

European rare disease database

Orphanet:1875

GARD

Genetic and Rare Diseases Info Center

GARD:835

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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congenital muscular dystrophy-infantile cataract-hypogonadism syndrome

Overview

Clinical Presentation

Explore clinical features

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

Orphanet

GARD

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