Similar to 大理石骨病

Usher syndrome

Ehlers–Danlos syndrome

Neuromyotonia

Isovaleric acidemia

Sotos syndrome

Chromosome 5q deletion syndrome

CHARGE syndrome

MELAS syndrome

Alport syndrome

Hereditary sensory and autonomic neuropathy

Werner syndrome

Trisomy 18

Familial Mediterranean fever

Cronkhite–Canada syndrome

Osteogenesis imperfecta

Cardiofaciocutaneous syndrome

Simpson–Golabi–Behmel syndrome

Down syndrome

Chédiak–Higashi syndrome

Dravet syndrome

Noonan syndrome

Patau syndrome

Huntington's disease

Mitochondrial DNA depletion syndrome

Mitochondrial disease

Persistent Müllerian duct syndrome

Anencephaly

Leber's hereditary optic neuropathy