Similar to シルバー・ラッセル症候群

Rare disease

Trisomy 16

DiGeorge syndrome

Chromosome 5q deletion syndrome

CHARGE syndrome

MELAS syndrome

Neuromyotonia

Subacute sclerosing panencephalitis

Malignant hyperthermia

Usher syndrome

Alport syndrome

Antithrombin III deficiency

Isovaleric acidemia

Hereditary sensory and autonomic neuropathy

Williams syndrome

Werner syndrome

Rabbit syndrome

Ehlers–Danlos syndrome

Pyoderma gangrenosum

Trisomy 18

Erdheim–Chester disease

Distal myopathy

Ohtahara syndrome

Orotic aciduria

Ulcerative colitis

Cowden syndrome

Familial Mediterranean fever

Hidradenitis suppurativa