Orphanet: Dysmorphism pectus carinatum joint laxity syndrome
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Dysmorphism-pectus carinatum-joint laxity syndrome

Disease definition

Dysmorphism-pectus carinatum-joint laxity syndrome is characterised by joint laxity, pectus carinatum and facial dysmorphism (mild frontal bossing, a beaked nose with a low nasal bridge, malar hypoplasia, chubby cheeks, a striking philtrum and arched upper lips). It has been described in two siblings. The mode of transmission is unknown.

ORPHA:2104

Classification level: Disorder
  • Synonym(s):
    • Guízar Vázquez-Sánchez-Manzano syndrome
  • Prevalence: <1 / 1 000 000
  • Inheritance: Unknown 
  • Age of onset: Neonatal, Infancy
  • ICD-10: Q87.8
  • OMIM: -
  • UMLS: -
  • MeSH: -
  • GARD: -
  • MedDRA: -
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