X-linked chronic idiopathic intestinal pseudo-obstruction

An intestinal pseudo-obstruction that has_material_basis_in mutations in the FLNA gene on chromosome Xq28.

Signs and symptoms

• Downslanted palpebral fissures
• Intestinal pseudo-obstruction
• Vomiting
• Increased mean platelet volume
• Abdominal distention
• Smooth philtrum
• Hypertelorism
• Abnormal facial shape
• Increased size of the mandible
• Feeding difficulties in infancy