Dysplasia, chondroectodermal Q82.8

Author: Prof. Dr. med. Peter Altmeyer

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Last updated on: 29.10.2020

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Definition
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Very rare, autosomal recessive syndrome with dysplasias of the descendants of the ectoderm and mesoderm. Clinical signs are polydactyly, occasionally syndactyly in the lower extremities, malformed fingernails: nail plate often only intimated, also anonymous, small or dwarfish growth as in chondrodystrophy: shortening of the long tubular bones, deformation of the distal and proximal epiphyses, microparticles, limited to the middle part of the upper lip, absence of the upper external incisors, etc.

Differential diagnosis
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Therapy
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Symptomatic, surgical corrections if necessary.

Disclaimer

Please ask your physician for a reliable diagnosis. This website is only meant as a reference.

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Last updated on: 29.10.2020