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osteopenia-intellectual disability-sparse hair syndrome - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

osteopenia-intellectual disability-sparse hair syndrome

MONDO:0009814

Also known as:Kaler-Garrity-Stern syndromeosteopenia and sparse hairosteopenia intellectual disability sparse hair

Overview

Kaler-Garrity-Stern syndrome is a rare syndrome, described in two sisters of Mennonite descent, characterized by sparse hair, osteopenia, intellectual disability, minor facial abnormalities, joint laxity and hypotonia. There have been no further descriptions in the literature since 1992.

GeneticsAutosomal recessive

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 always present findings: Low muscle tone (hypotonia). 6 total HPO annotations.

Organ System	Phenotype Count	Example Features
Bones and joints	2	Joint hypermobility, Mild bone density loss (osteopenia)
Head and neck

Diagnosis

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

Prognosis

Phenotype severity distribution: 1 always present feature.

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 osteopenia-intellectual disability-sparse hair syndrome.

300 publications have been identified in PubMed for osteopenia-intellectual disability-sparse hair syndrome. Kisho has analyzed 124 by research type. Research spans Review / Meta-Analysis (42%), Case Report / Case Series (17%), and Basic Science / Preclinical (17%).

Research Type	Count	% of Total
Research summaries	52	42%

Data assembled from 5 of 12 sources · Last updated Sep 20, 2026, 8:42 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:259690

Orphanet

European rare disease database

Orphanet:2324

GARD

Genetic and Rare Diseases Info Center

GARD:354

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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Kisho

osteopenia-intellectual disability-sparse hair syndrome

Overview

Clinical Presentation

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

Orphanet

GARD

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications

osteopenia-intellectual disability-sparse hair syndrome

Overview

Clinical Presentation

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications