Thoracic dysplasia-hydrocephalus syndrome

Definition

Thoracic dysplasia-hydrocephalus syndrome is an extremely rare primary bone dysplasia syndrome 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.

Disease data

Classification

Malformation syndrome

ORPHA code

1861

OMIM code

273730

ICD10 code

Q87.8

ICD11 code

*Soruce