Orphanet: Camptodactyly joint contractures facial skeletal defects syndrome
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Camptodactyly-joint contractures-facial skeletal defects syndrome

Disease definition

A rare multiple congenital anomalies syndrome characterized by the association of camptodactyly, multiple eye defects (fibrosis of the medial rectus muscle, severe myopia, ptosis and exophthalmos), scoliosis, flexion contractures and facial anomalies (arched eyebrows, facial asymmetry with an abnormal skull shape, a prominent nose, small mouth, low-set and dysplastic ears, and a low nuchal hairline).

ORPHA:1323

Classification level: Disorder
  • Synonym(s):
    • Rozin camptodactyly syndrome
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal dominant or Autosomal recessive 
  • Age of onset: Neonatal
  • ICD-10: Q87.0
  • OMIM: 602612
  • UMLS: C2931051
  • MeSH: -
  • GARD: 216
  • MedDRA: -

  A summary on this disease is available in Deutsch (2007) Español (2007) Français (2007) Italiano (2007) Nederlands (2007)

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