Similar to ダウン症候群

Sotos syndrome

Patau syndrome

Anencephaly

Trisomy 18

Noninvasive prenatal testing

Chédiak–Higashi syndrome

Dravet syndrome

Noonan syndrome

Klippel–Feil syndrome

CHARGE syndrome

Usher syndrome

H syndrome

Ehlers–Danlos syndrome

Ohtahara syndrome

Rare disease

Osteogenesis imperfecta

Cardiofaciocutaneous syndrome

Simpson–Golabi–Behmel syndrome

Fragile X syndrome

Rare Disease Day

Congenital insensitivity to pain with anhidrosis

Osteopetrosis

Cystic fibrosis

Huntington's disease

Homocystinuria

Mitochondrial DNA depletion syndrome

Persistent Müllerian duct syndrome

Maple syrup urine disease