Similar to ポイツ・ジェガーズ症候群

Cowden syndrome

Cronkhite–Canada syndrome

Familial adenomatous polyposis

Fundic gland polyposis

Juvenile polyposis syndrome

Trisomy 16

DiGeorge syndrome

Chromosome 5q deletion syndrome

CHARGE syndrome

MELAS syndrome

Isovaleric acidemia

Williams syndrome

Werner syndrome

Ehlers–Danlos syndrome

Trisomy 18

Ohtahara syndrome

Orotic aciduria

Familial Mediterranean fever

Kallmann syndrome

Gangliosidosis

Rare disease

Gitelman syndrome

Ichthyosis

Myotonic dystrophy

Muscular dystrophy

Glucose-6-phosphate dehydrogenase deficiency

Haemophilia

Primary ciliary dyskinesia