Similar to マルファン症候群

Ehlers–Danlos syndrome

Chromosome 5q deletion syndrome

CHARGE syndrome

MELAS syndrome

Usher syndrome

Albinism

Alport syndrome

Isovaleric acidemia

Hereditary sensory and autonomic neuropathy

Werner syndrome

Trisomy 18

Ichthyosis

Xeroderma pigmentosum

Neurofibromatosis type I

Leber's hereditary optic neuropathy

Monilethrix

Pseudoxanthoma elasticum

Trisomy 16

DiGeorge syndrome

Alkaptonuria

Hereditary nonpolyposis colorectal cancer

Gastroschisis

Williams syndrome

H syndrome

Ohtahara syndrome

Orotic aciduria