Ivemark syndrome is a rare disorder that affects multiple organ systems of the body. It is characterized by the absence (asplenia) or underdevelopment (hypoplasia) of the spleen, malformations of the heart and the abnormal arrangement of the inter...

Chromosome 9, Partial Monosomy 9p is a rare chromosomal disorder in which there is deletion (monosomy) of a portion of the 9th chromosome. Characteristic symptoms and findings include mental retardation; distinctive malformations of the skull and ...

Catel-Manzke syndrome is a rare genetic disorder characterized by distinctive abnormalities of the index fingers; the classic features of Pierre Robin syndrome; and, in some cases, additional physical findings. Pierre Robin syndrome refers to a se...

Pentalogy of Cantrell is a rare disorder that is present at birth (congenital). Pentalogy of Cantrell is characterized by a combination of birth defects. These birth defects can potentially involve the breastbone (sternum), the muscle that separat...