Crisponi/Cold-Induced Sweating Syndrome-1

**Semantic type:** Disease or Syndrome

**Definition:** An autosomal recessive condition caused by mutation(s) in the CRLF1 gene, encoding cytokine receptor-like factor 1. It is characterized by cold-induced sweating syndrome, dysmorphic features, poor sucking reflex, and temperature spikes presenting at infancy.

**Synonyms:** - CISS1 - Cold-Induced Sweating Syndrome 1 - Crisponi Syndrome - Sohar-Crisponi Syndrome