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.

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

3.	OMIM.ORG article Omim 613382