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Ring chromosome 4 syndrome

Disease definition

Ring chromosome 4 syndrome is an autosomal anomaly characterized by variable clinical features, most commonly including significant intrauterine and postnatal growth retardation, developmental delay, intellectual disability, microcephaly, and dysmorphic facial features. Some less frequent features are cleft lip and/or cleft palate, congenital cardiovascular, gastrointestinal and genitourinary system anomalies.

ORPHA:1447

  • Synonym(s):
    • Ring 4
    • Ring chromosome 4
    • Syndrome r(4)
    • r(4) syndrome
  • Prevalence: <1 / 1 000 000
  • Inheritance: -
  • Age of onset: Infancy, Neonatal
  • ICD-10: Q93.2
  • OMIM: -
  • UMLS: C0265407  C2931556
  • MeSH: C537636
  • GARD: 1339
  • MedDRA: -
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