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

H syndrome

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