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trichorhinophalangeal syndrome


Definition: a condition characterized by sparse fine hair, broad nose with a long philtrum, swollen middle phalanges with cone-shaped epiphyses, and growth retardation. There seem to be at least three similar disorders, two dominant [MIM*150230 and MIM 190350] and one recessive [MIM*275500].

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© Copyright 2018 Wolters Kluwer. All Rights Reserved. Review date: Sep 19, 2016.