disease: Cold-induced sweating syndrome 1

nameCold-induced sweating syndrome 1
descriptionCrisponi syndrome, the infantile presentation of cold-induced sweating syndrome (CISS), is characterized by dysmorphic features (distinctive facies, lower facial weakness, flexion deformity at the elbows, camptodactyly with fisted hands, misshapen feet, and overriding toes), poor suck reflex and severely impaired swallowing, and temperature spikes associated with an increased risk for seizures and sudden death. During the first decade of life, children with CISS develop profuse sweating of the face, arms, and chest with ambient temperatures below 18º to 22º C, and with other stimuli including apprehension or ingestion of sweets. Affected individuals sweat very little in hot environments and may feel overheated. In the second decade, progressive thoracolumbar kyphoscoliosis requires intervention.
variant-disease NM_004750.5(CRLF1):c.226T>G (p.Trp76Gly) AND Cold-induced sweating syndrome 1
NM_004750.5(CRLF1):c.857_864del (p.Val286fs) AND Cold-induced sweating syndrome 1
NM_004750.5(CRLF1):c.538C>T (p.Gln180Ter) AND Cold-induced sweating syndrome 1
NM_004750.5(CRLF1):c.713dup (p.Pro239fs) AND Cold-induced sweating syndrome 1
NM_004750.5(CRLF1):c.527+5G>A AND Cold-induced sweating syndrome 1
... 19 more