Disease Information for Polyostotic fibrous dysplasia (MAS syn)

McCune Albright Syndrome; Albright Syndrome; MAS; Osteitis Fibrosa Disseminata; PFD; POFD; Polyostotic, Fibrous Dysplasia; Precocious Puberty with Polyostotic Fibrosis and Abnormal Pigmentation; McCune-Albright Syndrome (MAS) is a rare multisystem disorder characterized by (1) replacement of normal bone tissue with areas of abnormal fibrous growth (fibrous dysplasia); (2) patches of abnormal skin pigmentation (ie, areas of light-brown skin [cafe-au-lait spots] with jagged borders); abnormalities in sexual development, and certain other metabolic functions (multiple endocrine dysfunction); Depending on the number and location of the skeletal abnormalities, mobility may be impaired, as well as vision and/or hearing, and the individual may experience substantial pain; Malfunctioning endocrine glands can result in the development of secondary sexual characteristics at an age younger than normal (precocious puberty); McCune-Albright Syndrome is the result of a genetic change (mutation) that occurs randomly, for no apparent reason (sporadic); In individuals with the disorder, this sporadic genetic mutation is present in only some of the body"s cells (mosaic pattern); The symptoms and physical characteristics associated with the disorder vary greatly from case to case, depending upon the specific body cells and tissues that are affected by the genetic mutation; This mutation occurs after fertilization (postzygotic somatic mutation); It is not inherited from the parents; The range of severity of the disorder is very broad: some children are diagnosed in early infancy with obvious anomalies of bone and increased hormone production by one or more of the endocrine glands; others show no evidence of bone, skin or endocrine malfunction in childhood and may enter puberty at an appropriate age; ------------------[NORD 2005]-------------------

McCune-Albright syndrome ;Albright-McCune-Sternberg syndrome; Weil-Albright syndrome; Brown spot syndrome, leontiasis ossea, osteitis fibrosa cystica, osteitis fibrosis cystica disseminata, osteitis fibrosa disseminata, osteodystrophia fibrosa, polystotic fibrous dysplasia;

A rare congenital developmental disorder beginning in childhood or early adolescence, combining polystotic fibrous dysplasia of the bone, café-au-lait pigmentation of the skin, precocious puberty in girls; The long bones are most frequently affected; Short stature, round face, shortened metacarpals and metatarsals, difficulty in walking; Orthopaedic care may be necessary for disability resulting from pathologic fractures and bony overgrowth; Varying degree of mental retardation; Puberty is usually reached at 5 to 10 years of age; Predominantly in females (3:2); This condition is similar to the Jaffe-Lichtenstein syndrome, but distinguished from that by the patchy skin pigmentation and sexual precocity----------[whonamedit_com 2005]-------

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