Similar to ソトス症候群

Down syndrome

Patau syndrome

Anencephaly

Noninvasive prenatal testing

Ehlers–Danlos syndrome

Trisomy 18

Osteopetrosis

Dravet syndrome

Noonan syndrome

CHARGE syndrome

Isovaleric acidemia

Ohtahara syndrome

Familial Mediterranean fever

Rare disease

Cronkhite–Canada syndrome

Osteogenesis imperfecta

Cardiofaciocutaneous syndrome

Simpson–Golabi–Behmel syndrome

Fragile X syndrome

Rare Disease Day

Congenital insensitivity to pain with anhidrosis

Chédiak–Higashi syndrome

Cystic fibrosis

Huntington's disease

Homocystinuria

Mitochondrial DNA depletion syndrome

Mitochondrial disease

Persistent Müllerian duct syndrome