Similar to オルブライト遺伝性骨異栄養症

Werner syndrome

H syndrome

Ehlers–Danlos syndrome

Aicardi–Goutières syndrome

Trisomy 18

FG syndrome

Emery–Dreifuss muscular dystrophy

Ohtahara syndrome

Hereditary hemorrhagic telangiectasia

Orotic aciduria

Cowden syndrome

Familial hypercholesterolemia

Familial adenomatous polyposis

Familial Mediterranean fever

Sickle cell disease

Kallmann syndrome

Oculopharyngeal muscular dystrophy

Gangliosidosis

Rare disease

Gitelman syndrome

Ichthyosis

Myotonic dystrophy

Muscular dystrophy

Klinefelter syndrome

Cronkhite–Canada syndrome

Haemophilia