Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

Brachydactyly type E2

Brachydactyly type E2 is an autosomal dominant disorder caused by mutations of the PTHLH gene. Patients exhibit a short stature and some skeletal abnormalities. Hands and feet show short metatarsals (III-V), and dentation is delayed and sometimes accompanied by oligodontia.

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
PTHLH
Brachydactyly types B and E combined
Brachydactyly-syndactyly
Fibular aplasia-complex brachydactyly syndrome

References:

1.

Maass PG et al. (2010) A cis-regulatory site downregulates PTHLH in translocation t(8;12)(q13;p11.2) and leads to Brachydactyly Type E.

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2.

Klopocki E et al. (2010) Deletion and point mutations of PTHLH cause brachydactyly type E.

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3.

OMIM.ORG article

Omim 613382 [^]
Update: April 29, 2019