Amish, Mennonite, and Hutterite
Genetic Disorder Database

Split-hand/foot malformation with long bone deficiency 3

Disorder
OMIM #: #612576  (Click to access OMIM database)
Disorder: Split-hand/foot malformation with long bone deficiency 3 
Also known as: SHFLD3
Chromosome 17p13.3, telomeric, duplication syndrome 
Clinical
Phenotype:  
Seen In: Amish
Old Order Mennonite
Old Colony Mennonite
Unknown/Other Mennonite
Hutterite
Remarks:

Testing is available at LHSC.

incomplete penetrance, variable expressivity 

Mutations
1   Unknown / Other Mennonite  
Gene:
Base Change: 17p13.3 microduplication
Amino Acid Change:
Last updated: 2019-01-24 

References
Armour CM, Bulman DE, Jarinova O, Rogers RC, Clarkson KB, DuPont BR, Dwivedi A, Bartel FO, McDonell L, Schwartz CE, Boycott KM, Everman DB, Graham GE. (2011) 17p13.3 microduplications are associated with split-hand/foot malformation and long-bone deficiency (SHFLD). Eur J Hum Genet Nov;19(11):1144-51.
PubMed ID: 21629300 

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