Cafй au lait spots on the back of a 9-year-old girl.
Medical dictionary. 2011.
tuberous sclerosis complex — an autosomal dominant disorder caused by mutation in either of two genes, the TSC1 gene (locus: 9q34), which encodes hamartin, or the TSC2 gene (locus: 16p13), which encodes tuberin; the two proteins are involved in tumor suppression; although… … Medical dictionary
type 2B — a subtype of type 2 resembling type 2A except that parathyroid hyperplasia is rare, mean survival time is shorter, a marfanoid body habitus may occur, and there may be disfiguring neuromas of the lips, buccal mucosa, and tongue, neurofibromas of… … Medical dictionary
neurofibromatosis 1 — (NF1) an autosomal dominant disorder due to mutation in the NF1 gene (locus: 17q11.2), which encodes the tumor suppressor neurofibromin; it is marked by developmental changes in the nervous system, muscles, bones, and skin with cafй au lait… … Medical dictionary
Silver syndrome — Silver Russell syndrome a syndrome consisting of low birth weight despite normal length of gestation, short stature, lateral asymmetry, and slight to moderate increase in excretion of gonadotropins, which may be associated with incurved fifth… … Medical dictionary
Watson syndrome — a rare, autosomal dominant condition characterized by pulmonary stenosis, cafй au lait spots, subnormal intelligence, and sometimes neurofibromas; some authorities consider it a variant of neurofibromatosis 1 … Medical dictionary
