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osteoporosis-macrocephaly-blindness-joint hyperlaxity syndrome - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

osteoporosis-macrocephaly-blindness-joint hyperlaxity syndrome

MONDO:0017199

Also known as:Heide syndrome

Overview

Osteoporosis-macrocephaly-blindness-joint hyperlaxity syndrome is characterized by osteoporosis, macrocephalus, brachytelephalangy, and hyperextensibility of the joints. Congenital amaurosis and intellectual deficit have also been reported. This syndrome has been described in three members of one family.

Diagnosis

Biomarker and diagnostic research for osteoporosis-macrocephaly-blindness-joint hyperlaxity syndrome has been reported in the published literature.

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 osteoporosis-macrocephaly-blindness-joint hyperlaxity syndrome.

46 publications have been identified in PubMed for osteoporosis-macrocephaly-blindness-joint hyperlaxity syndrome. Research spans Epidemiology / Natural History (28%), Case Report / Case Series (22%), and Other (13%).

Research Type	Count	% of Total
Disease patterns and progression	13	28%

Data assembled from 3 of 12 sources · Last updated Sep 20, 2026, 11:13 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

Orphanet

European rare disease database

Orphanet:2787

GARD

Genetic and Rare Diseases Info Center

GARD:18778

Questions for Your Care Team

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osteoporosis-macrocephaly-blindness-joint hyperlaxity syndrome

Overview

Diagnosis

Research Landscape

Medical References

External Resources

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Recent Publications