A cold-induced sweating syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the CRLF1 gene on chromosome 19p13 and is characterized in the neonatal period by orofacial weakness with impaired sucking and swallowing resulting in poor feeding necessitating medical intervention. (DO)
cold-induced sweating syndrome 2
cold-induced sweating syndrome 3
Synonyms
Exact Synonyms:
CISS1
;
Crisponi/cold-induced sweating syndrome 1
;
tetanoform muscle contractions with characteristic face, camptodactyly, hyperthermia, and sudden death