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hydrocephaly-tall stature-joint laxity syndrome - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

hydrocephaly-tall stature-joint laxity syndrome

MONDO:0009363

Also known as:Daish-Hardman-Lamont syndromehydrocephalus, tall stature, JOINT laxity, and kyphoscoliosishydrocephalus, tall stature, joint laxity and kyphoscoliosis

Overview

Hydrocephaly-tall stature-joint laxity syndrome is a multiple congenital anomalies syndrome described in two sisters and characterized by the presence of hydrocephalus (onset in infancy), tall stature, joint laxity, and thoracolumbar kyphosis. There have been no further descriptions in the literature since 1989.

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: Kyphoscoliosis, Tall stature, Joint hypermobility, and Hydrocephalus and 1 more.

Organ System	Phenotype Count	Example Features
Bones and joints	3	Kyphoscoliosis, Joint hypermobility, Thoracolumbar kyphosis
Growth and development

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 hydrocephaly-tall stature-joint laxity syndrome.

247 publications have been identified in PubMed for hydrocephaly-tall stature-joint laxity syndrome. Kisho has analyzed 27 by research type. Research spans Review / Meta-Analysis (56%), Case Report / Case Series (19%), and Epidemiology / Natural History (19%).

Research Type	Count	% of Total
Research summaries	15	56%

Data assembled from 5 of 12 sources · Last updated Sep 20, 2026, 5:33 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:236660

Orphanet

European rare disease database

Orphanet:2181

GARD

Genetic and Rare Diseases Info Center

GARD:1666

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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hydrocephaly-tall stature-joint laxity syndrome

Overview

Clinical Presentation

Prognosis

Research Landscape

Medical References

External Resources

OMIM

Orphanet

GARD

Questions for Your Care Team

Questions for Your Care Team

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Recent Publications

hydrocephaly-tall stature-joint laxity syndrome

Overview

Clinical Presentation

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