Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

Brachydactyly type D

Brachydactyly type D is an autosomal dominant disorder caused by mutations of the HOXD13 gene. Characteristic is a shortage of the thumb. Short stature and other skeletal abnormalities are not typical.

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
HOXD13
Brachydactyly type E1
Brachydactyly type E2
Brachydactyly types B and E combined
Brachydactyly-syndactyly
Fibular aplasia-complex brachydactyly syndrome

References:

1.

Johnson D et. al. (2003) Missense mutations in the homeodomain of HOXD13 are associated with brachydactyly types D and E.

[^]
2.

Gray E et. al. () Inheritance of brachydactyly type D.

[^]
3.

Robin NH et. al. (1999) Clinical and molecular studies of brachydactyly type D.

[^]
4.

GOODMAN RM et. al. (1965) A GENETIC STUDY OF STUB THUMBS AMONG VARIOUS ETHNIC GROUPS IN ISRAEL.

[^]
Update: Sept. 26, 2018