Orphanet: Thoracic dysplasia hydrocephalus syndrome

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Disease definition

A rare syndromic primary bone dysplasia characterized by short ribs with a narrow chest and thoracic dysplasia, mild rhizomelic shortening of the limbs, communicating hydrocephalus, and developmental delay. There have been no further descriptions in the literature since 1987.

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Thoracic dysplasia-hydrocephalus syndrome

ORPHA:1861

A summary on this disease is available in Español (2018) Français (2018) Italiano (2018) Nederlands (2018) Polski ()

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