Conditions / Syndrome
hypotrichosis-lymphedema-telangiectasia-renal defect syndrome
info · Syndrome
A syndrome characterized by onset in childhood of progressive hypotrichosis, lymphedema, telangiectasia, and renal defects that has_material_basis_in heterozygous mutation in the SOX18 gene on chromosome 20q13.33.
Signs and symptoms
- Absent eyebrow
- Absent eyelashes
- Lymphedema
- Hydrocele testis
- Sparse scalp hair
- Epicanthus
- Alopecia
- Dermal translucency
- Facial telangiectasia in butterfly midface distribution
- Renal insufficiency
Also known as: HLT-renal defect syndrome; HLTRS; glomerulonephritis with sparse hair and telangiectases; hypotrichosis-lymphedema-telangiectasia-membranoproliferative glomerulonephritis syndrome; telangiectatic membranoproliferative glomerulonephritis