- McCune-Albright syndrome
Name = McCune-Albright syndrome
DiseasesDB = 7880
ICD10 = ICD10|Q|78|1|q|65
ICD9 = ICD9|756.54
OMIM = 174800
MedlinePlus = 001217
eMedicineSubj = ped
eMedicineTopic = 1386
MeshID = D005359
McCune-Albright syndrome (polyostotic fibrous dysplasia), described in
1937by Donovan James McCuneand Fuller Albright, [WhoNamedIt|synd|1844] is a genetic disorderof bones, skin pigmentationand hormonal problems along with premature puberty.
It is suspected when two of the three following features are present:
endocrinehyperfunction such as precocious puberty
syndromethere are bone fractures and deformity of the legs, arms and skull, different pigment patches on the skin, and early puberty with increased rate of growth.
Polyostotic fibrous dysplasia has different levels of severity. For example one child may be entirely healthy with no outward evidence of bone or endocrine problems, enter puberty at close to the normal age and have no unusual skin pigmentation. The complete opposite of that would be children who are diagnosed in early infancy with the obvious bone disease and obvious increased endocrine secretions from several glands.
Approximately 20-30% of fibrous dysplasias are polyostotic and two thirds of patients are polyostotic before the age of ten.
Polyostotic fibrous dysplasia is usually caused by mosaicism for a mutation in a gene called GNAS1 (Guanine Nucleotide binding protein, Alpha Stimulating activity polypeptide 1).
The syndrome shows a broad spectrum of severity. The disease frequently involves the
skulland facial bones, pelvis, spine and shoulder girdle. The sites of involvement are the femur(91%), tibia(81%), pelvis (78%), ribs, skull and facial bones (50%), upper extremities, lumbar spine, clavicle, and cervical spine, in decreasing order of frequency. The craniofacial pattern of the disease occurs in 50% of patients with the polyostotic form of fibrous dysplasia.
The disease made headlines in December, 2005 when a
Haitian teen afflicted with the disease, Marlie Casseus, underwent a 17-hour emergency surgical procedure to remove a 16 pound tumour-like growth of bone from her face. A series of operations at Holtz Children's Hospital in Miami, Floridarestored the child's face to a more normal proportion. [cite web |url=http://www.internationalkidsfund.org/ikf_kids/details.cfm?KD_ID=123 |title=Marlie Casseus |accessdate=2007-07-14 |format= |work=]
* [http://www.medterms.com/script/main/art.asp?articlekey=11362 Medterms.com]
* [http://www.le.ac.uk/genetics/maa7/GNAS1/ GNAS gene]
* [http://www.rarediseases.org/search/rdbdetail_abstract.html?disname=McCune%20Albright%20Syndrome NORD]
* [http://www.gfmer.ch/genetic_diseases_v2/gendis_detail_list.php?cat3=189 GFMER]
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