Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders
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Brachydactyly-syndactyly

Zhao-type Brachydactyly is an autosomal dominant brachydactyly-syndactyly-oligodactyly syndrome caused by mutations of the HOXD13. It is characterized by metaphalangeal shortage of digits 2 and 5 while digits 3 and 4 often show syndactyly. Patients may exhibit a short stature and some other skeletal abnormalities.

Systematic

Brachydactyly
Brachydactyly type A1
Brachydactyly type A2
Brachydactyly type A3
Brachydactyly type A4
Brachydactyly type B1
Brachydactyly type B2
Brachydactyly type C
Brachydactyly type D
Brachydactyly type E1
Brachydactyly type E2
Brachydactyly types B and E combined
Brachydactyly-syndactyly
HOXD13
Fibular aplasia-complex brachydactyly syndrome

References:

1.

Zhao X et al. (2007) Mutations in HOXD13 underlie syndactyly type V and a novel brachydactyly-syndactyly syndrome.

external link
2.

Ibrahim DM et al. (2013) Distinct global shifts in genomic binding profiles of limb malformation-associated HOXD13 mutations.

external link
3.

OMIM.ORG article

Omim 610713 external link
Update: Aug. 14, 2020
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