National Center for Advancing and Translational Sciences Genetic and Rare Diseases Information Center, a program of the National Center for Advancing and Translational Sciences

Hypotrichosis-lymphedema-telangiectasia syndrome


Other Names:
Hypotrichosis lymphedema telangiectasia syndrome; HLTS; Hypotrichosis-lymphedema-telangiectasia-membranoproliferative glomerulonephritis syndrome; Hypotrichosis lymphedema telangiectasia syndrome; HLTS; Hypotrichosis-lymphedema-telangiectasia-membranoproliferative glomerulonephritis syndrome; Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome See More
Categories:
Hypotrichosis-lymphedema-telangiectasia syndrome (HLTS) is a rare condition that, as the name suggests, is associated with sparse hair (hypotrichosis), lymphedema, and telangiectasia, particularly on the palms of the hands. Symptoms usually begin at birth or in early childhood and become worse over time. HLTS is thought to be caused by changes (mutations) in the SOX18 gene. It can follow both an autosomal dominant or an autosomal recessive pattern of inheritance, depending on the affected family. There is currently no cure for the condition. Treatment is based on the signs and symptoms present in each person.[1][2][3]
Last updated: 11/20/2015

This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.

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Medical Terms Other Names
Learn More:
HPO ID
80%-99% of people have these symptoms
Abnormality of the lymphatic system 0100763
Absent eyebrow
Failure of development of eyebrows
0002223
Absent eyelashes
Failure of development of eyelashes
0000561
Alopecia
Hair loss
0001596
Palmar telangiectasia 0100869
Plantar telangiectasia 0100870
Predominantly lower limb lymphedema 0003550
Sparse body hair 0002231
Sparse scalp hair
Reduced/lack of hair on scalp
Scalp hair, thinning
Sparse, thin scalp hair
sparse-absent scalp hair
[ more ] 		0002209
30%-79% of people have these symptoms
Cutis marmorata 0000965
Hydrocele testis 0000034
Palpebral edema
Fullness of eyelids
Puffy eyelids
Puffy lids
Swelling of eyelids
[ more ] 		0100540
5%-29% of people have these symptoms
Ascites
Accumulation of fluid in the abdomen
0001541
Dermal atrophy
Skin degeneration
0004334
Hydrops fetalis 0001789
Pleural effusion
Fluid around lungs
0002202
Percent of people who have these symptoms is not available through HPO
Abnormality of the dentition
Abnormal dentition
Abnormal teeth
Dental abnormality
[ more ] 		0000164
Autosomal dominant inheritance 0000006
Autosomal recessive inheritance 0000007
Nonimmune hydrops fetalis 0001790
Sparse hair 0008070
Thin skin 0000963
Toenail dysplasia
Abnormal toenail development
0100797
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Last updated: 7/1/2020

If you need medical advice, you can look for doctors or other healthcare professionals who have experience with this disease. You may find these specialists through advocacy organizations, clinical trials, or articles published in medical journals. You may also want to contact a university or tertiary medical center in your area, because these centers tend to see more complex cases and have the latest technology and treatments.

If you can’t find a specialist in your local area, try contacting national or international specialists. They may be able to refer you to someone they know through conferences or research efforts. Some specialists may be willing to consult with you or your local doctors over the phone or by email if you can't travel to them for care.

You can find more tips in our guide, How to Find a Disease Specialist. We also encourage you to explore the rest of this page to find resources that can help you find specialists.

Healthcare Resources

These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.

In-Depth Information

  • The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
  • Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine. 
  • Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
  • PubMed is a searchable database of medical literature and lists journal articles that discuss Hypotrichosis-lymphedema-telangiectasia syndrome. Click on the link to view a sample search on this topic.

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  1. HYPOTRICHOSIS-LYMPHEDEMA-TELANGIECTASIA SYNDROME. OMIM. June 2015; http://www.omim.org/entry/607823.
  2. Wünnemann F, Kokta V, Leclerc S, Thibeault M, McCuaig C, Hatami A, Stheneur C, Grenier JC, Awadalla P, Mitchell GA, Andelfinger G, Preuss C. Aortic Dilatation Associated With a De Novo Mutation in the SOX18 Gene: Expanding the Clinical Spectrum of Hypotrichosis-Lymphedema-Telangiectasia Syndrome. Can J Cardiol. April 2015;
  3. Downes M, François M, Ferguson C, Parton RG, Koopman P. Vascular defects in a mouse model of hypotrichosis-lymphedema-telangiectasia syndrome indicate a role for SOX18 in blood vessel maturation.. Hum Mol Genet. August 2009; 18(15):2839-2850.