Amish, Mennonite, and Hutterite
Genetic Disorder Database

Spondyloepiphyseal dysplasia and humerospinal dysostosis

Disorder
OMIM #: #143095  (Click to access OMIM database)
Disorder: Spondyloepiphyseal dysplasia and humerospinal dysostosis 
Also known as: SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS
SEDCJD
HUMEROSPINAL DYSOSTOSIS
HSD SPONDYLOEPIPHYSEAL DYSPLASIA, OMANI TYPE CHONDRODYSPLASIA WITH MULTIPLE DISLOCATIONS
CDMD 
Clinical
Phenotype: dislocation of the knees and/or hips at birth, clubfoot, elbow joint dysplasia with subluxation and limited extension, short stature, and progressive kyphosis developing in late childhood 
Seen In: Amish
Old Order Mennonite
Old Colony Mennonite
Unknown/Other Mennonite
Hutterite
Remarks:  
Mutations
1   Amish  
Gene: CHST3
Base Change: C>T, at nucleotide 1298
Amino Acid Change:
Last updated: 2019-07-03 

References
Personal communication; seen at CSC.  

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