Conditions / Syndrome
cold-induced sweating syndrome 1
info · Syndrome
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 p
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.
Signs and symptoms
- Facial palsy
- Limited elbow extension
- Long philtrum
- Anteverted nares
- Narrow mouth
- Large face
- Feeding difficulties in infancy
- Hyperhidrosis
- Radial deviation of finger
- High palate