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Thoracic dysplasia-hydrocephalus syndrome

MedGen UID:
338562
Concept ID:
C1848864
Disease or Syndrome
Synonym: Thoracic Dysplasia-Hydrocephalus Syndrome
SNOMED CT: Thoracic dysplasia and hydrocephalus syndrome (782951006)
 
Monarch Initiative: MONDO:0010115
OMIM®: 273730
Orphanet: ORPHA1861

Definition

An extremely rare primary bone dysplasia syndrome with characteristics of 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. [from SNOMEDCT_US]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVThoracic dysplasia-hydrocephalus syndrome
Follow this link to review classifications for Thoracic dysplasia-hydrocephalus syndrome in Orphanet.

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