Amish, Mennonite, and Hutterite
Genetic Disorder Database

Birt-Hogg-Dube syndrome

Disorder
OMIM #: #135150  (Click to access OMIM database)
Disorder: Birt-Hogg-Dube syndrome 
Also known as: Hornstein-Knickenberg syndrome
fibrofolliculomas with trichodiscomas and acrochordons 
Clinical
Phenotype: spontaneous pneumothorax, hair follicle hamartomas, kidney tumors 
Seen In: Amish
Old Order Mennonite
Old Colony Mennonite
Unknown/Other Mennonite
Hutterite
Remarks:  
Mutations
Unknown
Last updated: 2018-04-23 

References
Pierce CW, Hull PR, Lemire EG, Marciniuk DD. (2011) Birt-Hogg-Dubé syndrome: an inherited cause of spontaneous pneumothorax. CMAJ Jun 14;183(9):E601-3.
PubMed ID: 21398229 

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