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hypotrichosis-lymphedema-telangiectasia syndrome (HLTS) - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

hypotrichosis-lymphedema-telangiectasia syndrome

MONDO:0011914

Also known as:HLTS

Overview

GeneticsAutosomal recessive · SOX18 (chr 20)

ResearchLimited published research (1 article)

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: Absent eyebrow, Absent eyelashes, Hydrocele testis, and Sparse scalp hair; and common findings: Predominantly lower limb lymphedema, Palmar telangiectasia, and Thin skin. 13 total HPO annotations.

Organ System	Phenotype Count	Example Features
Skin	5	Abnormal nail morphology, Alopecia, Predominantly lower limb lymphedema

Genetic Landscape

SOX18 function has not been fully characterized.

Hypotrichosis-lymphedema-telangiectasia syndrome is associated with mutations in the SOX18 gene on chromosome 20.

Diagnosis

Genetic testing for SOX18 is available. Testing is considered confirmatory for diagnosis.

Prognosis

Phenotype severity distribution: 4 always present features, 3 common features.

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 hypotrichosis-lymphedema-telangiectasia syndrome.

1 publication has been identified in PubMed for hypotrichosis-lymphedema-telangiectasia syndrome. Research spans Case Report / Case Series (100%).

Recent Publications

Kanno M (2026). [PMID: 41589511](https://pubmed.ncbi.nlm.nih.gov/41589511/). *Am J Med Genet A*. [Case Report / Case Series]

Data assembled from 5 of 12 sources · Last updated Sep 20, 2026, 6:10 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:607823

GARD

Genetic and Rare Diseases Info Center

GARD:15420

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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hypotrichosis-lymphedema-telangiectasia syndrome

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

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