Thoracic dysplasia-hydrocephalus syndrome
ORPHA:1861· ICD-10 Q87.8
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.
- Prevalence
- <1 / 1 000 000
- Age of onset
- Antenatal