ectrodactyly OMIM

Description: 225300 ECTRODACTYLY
Alternative titles;
ABSENCE OF FINGERS
When hereditary, this trait usually behaves as a dominant (183600). However, Klein (1932) described an affected boy and girl, born from the mating between a man and the daughter of his half brother. Verma et al. (1976) described split-hand and split-foot in a consanguineous kindred, and pointed to the cases of possible recessive inheritance published by Ray (1960) and Freire-Maia (1971). They concluded that no clinical features distinguishing the autosomal recessive and autosomal dominant forms were evident. Their photographs suggest that the disorder in their family was not typical lobster-claw deformity. The remaining rays were not as long as in the typical cases. Mufti and Wood (1987) invoked autosomal recessive inheritance to explain the occurrence of ectrodactyly in 4 half sisters from 2 different mothers. The family was Saudi and 1 of the matings was known to be consanguineous.