Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

Brachydactyly type E1

Brachydactyly type E1 is an autosomal dominant disorder caused by mutations of the HOXD13 gene. Characteristic is a shortage of metacarpals and metatarsals. 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
Brachydactyly type E1
HOXD13
Brachydactyly type E2
Brachydactyly types B and E combined
Brachydactyly-syndactyly
Fibular aplasia-complex brachydactyly syndrome

References:

1.

Oude Luttikhuis ME et. al. (1996) Isolated autosomal dominant type E brachydactyly: exclusion of linkage to candidate regions 2q37 and 20q13.

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2.

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

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3.

None (1968) Brachydactyly and pseudo-pseudohypoparathyroidism.

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4.

Gnamey D et. al. (1975) [Hereditary type E brachydactylia. Apropos of a familial case].

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5.

Poznanski AK et. al. (1977) The pattern of shortening of the bones of the hand in PHP and PPHP--A comparison with brachydactyly E, Turner Syndrome, and acrodysostosis.

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6.

Newcombe DS et. al. (1969) Roentgenographic manifestations of hereditary peripheral dysostosis.

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7.

McKusick VA et. al. () The clinical behavior of genetic disease: selected aspects.

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8.

Cartwright JD et. al. (1980) Brachydactyly type E: A report of a family.

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9.

Wilson LC et. al. (1995) Brachydactyly and mental retardation: an Albright hereditary osteodystrophy-like syndrome localized to 2q37.

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10.

HORTLING H et. al. (1960) Short-metacarpal or metatarsal bones: pseudo-pseudohypoparathroidism.

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Update: Sept. 26, 2018