Davis-Wells syndrome

A syndrome characterized by mild cognitive impairment, dysmorphism featuring oculoauricular abnormalities, and developmental defects involving genitourinary and digestive tracts that has_material_basis_in homozygous or compound heterozygous mutation in the CAC

A syndrome characterized by mild cognitive impairment, dysmorphism featuring oculoauricular abnormalities, and developmental defects involving genitourinary and digestive tracts that has_material_basis_in homozygous or compound heterozygous mutation in the CACHD1 gene on chromosome 1p31.

Signs and symptoms

• Mild intellectual disability
• Unilateral renal agenesis
• Postnatal growth retardation
• Hemifacial hypoplasia
• Hypospadias
• Hydronephrosis
• Borderline intellectual disability
• Abnormal calvaria morphology
• Inguinal hernia
• Irritability