Similar to パトウ症候群

Sotos syndrome

Down syndrome

Anencephaly

Noninvasive prenatal testing

Trisomy 18

Dravet syndrome

CHARGE 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

Chédiak–Higashi syndrome

Noonan syndrome

Cystic fibrosis

Homocystinuria

Mitochondrial DNA depletion syndrome

Persistent Müllerian duct syndrome

Maple syrup urine disease

Lesch–Nyhan syndrome

Monilethrix

Klippel–Feil syndrome

Tetra-amelia syndrome