Ontology highlight
ABSTRACT:
SUBMITTER: Aljabari S
PROVIDER: S-EPMC3773458 | biostudies-literature | 2013
REPOSITORIES: biostudies-literature
Aljabari Salim S Howard Emily E Bell Todd T Vasylyeva Tetyana L TL
Case reports in pediatrics 20130829
Mutation in the cytokine receptor-like factor 1 and the cardiotrophin-like cytokine (CRLF1 or CLCF1 genes) phenotypically presents as cold induced sweating syndrome (CISS), which is a rare autosomal recessive disorder. The syndrome is characterized by paradoxical sweating in cold weather, dysmorphic facial features, musculoskeletal deformities, difficulty in feeding, and unexplained recurrent episodes of high-grade fever. We are presenting the first case of CISS with urinary system anomaly, whic ...[more]