multiple intestinal atresia

info · Genetic

An intestinal disease characterized by the presence of numerous atresic segments in the small and large intestines that has_material_basis_in homozygous or compound heterozygous mutation in the TTC7A gene on chromosome 2p21.

Signs and symptoms

Intestinal obstruction
Thrombocytosis
Enterocolitis
Bloody diarrhea
Interface hepatitis
Prominent forehead
Enamel hypoplasia
Hypertelorism
T-cell lymphoma
Ileal atresia

Also known as: GIDID; Multiple gastrointestinal atresias; familial intestinal polyatresia syndrome; gastrointestinal defects and immunodeficiency syndrome