Similar to 心臓・顔・皮膚症候群

Usher syndrome

Ehlers–Danlos syndrome

Chromosome 5q deletion syndrome

CHARGE syndrome

MELAS syndrome

Alport syndrome

Isovaleric acidemia

Hereditary sensory and autonomic neuropathy

Werner syndrome

Trisomy 18

Simpson–Golabi–Behmel syndrome

Sotos syndrome

Osteopetrosis

Down syndrome

Chédiak–Higashi syndrome

Dravet syndrome

Patau syndrome

Mitochondrial DNA depletion syndrome

Persistent Müllerian duct syndrome

Anencephaly

Neuromyotonia

Rabbit syndrome

Trisomy 16

DiGeorge syndrome

ATR-X syndrome

FG syndrome

Alkaptonuria