Meckel-Gruber Syndrome
A genetic disorder which causes severe physical malformations. MMIH Syndrome
Megacystis microcolon intestinal hypoperistalsis syndrome (MMIH) is a disorder of smooth muscles.
Munchausen Syndrome
A psychological disorder in which a person fakes illness in order to receive attention. Munchausen syndrome by proxy means a caregiver gains attention by faking a child's illness. Noonan Syndrome
Noonan syndrome includes unusual facial features and several physical malformations. POEMS Syndrome
A plasma cell dyscrasia (bone marrow disorder) that causes multiple body system disorders, including neuropathy, organ overgrowth, glandular problems, and skin changes. Porphyria
Porphyria is a group of at least eight disorders involving abnormal accumulation of porphyrins or porphyrin precursors. Find links here to information and resources. Progeria syndromes
Syndromes involving premature aging. Hutchinson-Gilford syndrome begins in infancy, and Werner syndrome begins in adulthood. Prune Belly Syndrome
Also known as Eagle-Barrett or triad syndrome, a disorder affecting the urinary tract, abdominal muscles, and male testes. Rothmund Thomson Syndrome
An inherited disorder affecting many parts of the body, including skin, hair, eyes, and bones. Sarcoidosis
A disorder in which nodules form throughout the body. Tuberous Sclerosis
A genetic condition characterized by lesions of the skin and central nervous system. VATER/VACTERL Association
A group of birth defects known by the acronyms VATER or VACTERL, involving problems with vertebrae, anus, trachea, esophagus, and kidneys or limbs. Von Hippel-Lindau Disease
Inherited genetic disorder of chromosome 3 which causes the growth of tumors throughout the body. Waardenburg Syndrome
A genetic disorder resulting in hearing loss and eye and skin abnormalities. WAGR Syndrome
A genetic syndrome which includes Wilms' tumor (kidney cancer), eye abnormalities, genitourinary anomalies, and mental retardation.
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