Conditions / Syndrome
hypotrichosis-lymphedema-telangiectasia syndrome
info · Syndrome
A syndrome characterized by onset at birth or early childhood of progressive hypotrichosis, lymphedema, and telangiectasia that has_material_basis_in homozygous or compound heterozygous mutation in the SOX18 gene on chromosome 20q13.33.
Signs and symptoms
- Absent eyebrow
- Absent eyelashes
- Hydrocele testis
- Sparse scalp hair
- Predominantly lower limb lymphedema
- Palmar telangiectasia
- Thin skin
- Alopecia
- Palpebral edema
- Nonimmune hydrops fetalis
Also known as: HLTS