Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome
ORPHA:69735· ICD-10 Q82.0
Definition
An extremely rare syndromic lymphedema disorder characterized by early-onset hypotrichosis, childhood-onset lymphedema, and variable telangiectasia, particularly of the palms.
- Prevalence
- <1 / 1 000 000
- Inheritance
- Autosomal dominant, Autosomal recessive
- Age of onset
- Infancy, Neonatal