hypotrichosis-lymphedema-telangiectasia syndrome (grouping)
Findings
No curated finding names hypotrichosis-lymphedema-telangiectasia syndrome (grouping) yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Hypotrichosis - lymphedema - telangiectasia is an extremely rare syndromic lymphedema disorder characterized by early-onset hypotrichosis, childhood-onset lymphedema, and variable telangiectasia, particularly of the palms.
Definition from the Mondo Disease Ontology (MONDO:0007670), read 2026-09-29. CC BY 4.0.
Features
16 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Abnormality of the lymphatic systemHPOHP:0100763
- Very frequent (80% to 99% of cases)
- Absent eyebrowHPOHP:0002223
- Very frequent (80% to 99% of cases)
- Absent eyelashesHPOHP:0000561
- Very frequent (80% to 99% of cases)
- AlopeciaHPOHP:0001596
- Very frequent (80% to 99% of cases)
- Palmar telangiectasiaHPOHP:0100869
- Very frequent (80% to 99% of cases)
- Plantar telangiectasiaHPOHP:0100870
- Very frequent (80% to 99% of cases)
- Predominantly lower limb lymphedemaHPOHP:0003550
- Very frequent (80% to 99% of cases)
- Sparse body hairHPOHP:0002231
- Very frequent (80% to 99% of cases)
- Sparse scalp hairHPOHP:0002209
- Very frequent (80% to 99% of cases)
- Cutis marmorataHPOHP:0000965
- Frequent (30% to 79% of cases)
- Hydrocele testisHPOHP:0000034
- Frequent (30% to 79% of cases)
- Palpebral edemaHPOHP:0100540
- Frequent (30% to 79% of cases)
Show the remaining 4
- AscitesHPOHP:0001541
- Occasional (5% to 29% of cases)
- Dermal atrophyHPOHP:0004334
- Occasional (5% to 29% of cases)
- Hydrops fetalisHPOHP:0001789
- Occasional (5% to 29% of cases)
- Pleural effusionHPOHP:0002202
- Occasional (5% to 29% of cases)
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- SOX18HGNC:11194
- Supportive · Orphanet · Autosomal dominant · 2021
Where it sits
- A kind of