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Craniorhiny

MedGen UID:
338944
Concept ID:
C1852501
Disease or Syndrome
Synonym: CRANIORHINY
SNOMED CT: Craniorhiny (784350004)
 
Monarch Initiative: MONDO:0007398
OMIM®: 123050
Orphanet: ORPHA157832

Definition

A rare frontonasal dysplasia malformation syndrome with characteristics of an oxycephalic skull with craniosynostosis, wide nose with anteverted nostrils, hirsutism at base of nose, agenesis of the nasolacrimal ducts and bilateral symmetrical nasolabial cysts on upper lip. Additional features may include hypertelorism. There have been no further descriptions in the literature since 1991. [from SNOMEDCT_US]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVCraniorhiny
Follow this link to review classifications for Craniorhiny in Orphanet.

Recent clinical studies

Diagnosis

Lees MM, Kangesu L, Hall P, Hennekam RC
Am J Med Genet A 2007 Dec 15;143A(24):3290-4. doi: 10.1002/ajmg.a.32026. PMID: 17963218

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