congenital secretory sodium diarrhea 3

A secretory diarrhea that has_material_basis_in homozygous or compound heterozygous mutation in the SPINT2 gene on chromosome 19q13.

Signs and symptoms

• Secretory diarrhea
• Abdominal distention
• Choanal atresia
• Corneal erosion
• Polyhydramnios
• Rectovaginal fistula
• Ureteral duplication
• Macrocephaly
• Intestinal malrotation
• Low-set ears

Also known as: congenital secretory sodium diarrhea 3 syndromic; congenital secretory sodium diarrhea 3 with or without other congenital anomalies; congenital secretory sodium diarrhoea 3; congenital secretory sodium diarrhoea 3 syndromic; congenital secretory sodium diarrhoea 3 with or without other congenital anomalies