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Ring chromosome 21 syndrome

Disease definition

Ring chromosome 21 syndrome is an autosomal anomaly characterized by variable clinical features, most commonly including growth retardation, developmental delay, intellectual disability, epilepsy, microcephaly, short stature, dysmorphic features, hypogammaglobulinemia, thrombocytopenia and unspecific skeletal anomalies (hemivertebrae, clinodactyly, syndactyly). In rare cases, it has been described in phenotypically normal individuals.

ORPHA:1445

  • Synonym(s):
    • Chromosome 21 en anneau
    • Ring 21
    • Ring chromosome 21
  • Prevalence: Unknown
  • Inheritance: -
  • Age of onset: Antenatal, Neonatal
  • ICD-10: Q93.2
  • OMIM: -
  • UMLS: C0265487  C2931422
  • MeSH: C537109
  • GARD: 6083
  • MedDRA: -

Additional information

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