cold-induced sweating syndrome (CISS)

Genetics

• autosomal recessive disorder
• defects in CRLF1 or CLCF1 subunits of CRLF1/CLCF1 complex result in CISS

Clinical manifestations

• profuse sweating induced by cool surroundings (t = 7-18 C)
• high-arched palate
• nasal voice
• depressed nasal bridge
• inability to fully extend the elbows
• kyphoscoliosis.

More general terms

• genetic syndrome (multisystem disorder)

Additional terms

• cytokine receptor-like factor 1 (cytokine-like factor 1, CLF-1, ZcytoR5, CRLF1, ZCYTOR5, UNQ288/PRO327)

Database

• OMIM: https://mirror.omim.org/entry/272430