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intellectual disability-myopathy-short stature-endocrine defect syndrome - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

intellectual disability-myopathy-short stature-endocrine defect syndrome

MONDO:0009671

Also known as:Chudley-Rozdilsky syndromeChudley syndromemulticore myopathy with intellectual disability, short stature, and hypogonadotropic hypogonadism

Overview

Intellectual disability-myopathy-short stature-endocrine defect syndrome is a rare congenital myopathy syndrome characterized by nonprogressive myopathy (manifesting with mild facial and generalized weakness, bilateral ptosis, and severe lumbar lordosis), severe intellectual disability, short stature, and sexual infantilism (due to hypogonadotropic hypogonadism). The presence of a small pituitary fossa was also noted. There have been no further descriptions in the literature since 1985.

Diagnosis

Biomarker and diagnostic research for intellectual disability-myopathy-short stature-endocrine defect 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-myopathy-short stature-endocrine defect syndrome.

155 publications have been identified in PubMed for intellectual disability-myopathy-short stature-endocrine defect syndrome. Research spans Review / Meta-Analysis (62%), Basic Science / Preclinical (12%), and Epidemiology / Natural History (10%).

Research Type	Count	% of Total
Research summaries	96	62%

Data assembled from 4 of 12 sources · Last updated Sep 20, 2026, 2:37 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:253320

Orphanet

European rare disease database

Orphanet:3068

GARD

Genetic and Rare Diseases Info Center

GARD:1358

Questions for Your Care Team

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intellectual disability-myopathy-short stature-endocrine defect syndrome

Overview

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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