Hajdu-Cheney syndrome

Hajdu-Cheney syndrome

Infobox_Disease
Name = PAGENAME


Caption =
DiseasesDB = 31486
ICD10 =
ICD9 =
ICDO =
OMIM = 102500
MedlinePlus =
eMedicineSubj =
eMedicineTopic =
MeshID = D031845

Hajdu-Cheney syndrome is a rare genetic disordercite journal |author=Brennan AM, Pauli RM |title=Hajdu--Cheney syndrome: evolution of phenotype and clinical problems |journal=Am. J. Med. Genet. |volume=100 |issue=4 |pages=292–310 |year=2001 |month=May |pmid=11343321 |doi= |url=http://dx.doi.org/10.1002/1096-8628(20010515)100:4<292::AID-AJMG1308>3.0.CO;2-4] of the connective tissue characterized by severe and excessive bone resorption leading to osteoporosis and a wide range of other potential symptoms. Approximately 50 cases have been reported worldwide.

Treatment

Since about 2002, some patients with this disorder have been offered drug therapy with bisphosphonates (a class of osteoporosis drugs) to treat problems with bone resorption associated with the bone breakdown and skeletal malformations that characterize this disorder.

References

External links

* [http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=955 Acroosteolysis dominant type ] at Orphanet

* [http://www.hajdu-cheney.com/default.html HCS Support Group webpage]


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