Amish, Mennonite, and Hutterite
Genetic Disorder Database

Van Buchem Syndrome, Autosomal Dominant

Disorder
OMIM #: #239100  (Click to access OMIM database)
Disorder: Van Buchem Syndrome, Autosomal Dominant 
Also known as: HYPEROSTOSIS CORTICALIS GENERALISATA, HYPERPHOSPHATASEMIA TARDA, ENDOSTEAL HYPEROSTOSIS, AUTOSOMAL RECESSIVE 
Clinical
Phenotype: Osteosclerosis, optic atrophy, hearing impairment, ossification abnormalities 
Seen In: Amish
Old Order Mennonite
Old Colony Mennonite
Unknown/Other Mennonite
Hutterite
Remarks:  
Mutations
Unknown
Last updated: 2010-07-20 

References
Boycott KM, Parboosingh JS, Chodirker BN, Lowry RB, McLeod DR, Morris J, Greenberg CR, Chudley AE, Bernier FP, Midgley J, Møller LB, Innes AM. (2008) Clinical genetics and the Hutterite population: a review of Mendelian disorders. Am J Med Genet A 146A(8):1088-98.
PubMed ID: 18348266 

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