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Ring chromosome 10 syndrome

Disease definition

Ring chromosome 10 syndrome is characterized by intellectual deficit, growth retardation, and various dysmorphic features. Less than 20 cases have been described. The main features are low birth weight, microcephaly, stubby nose with a prominent nasal bridge, hypertelorism, strabismus, wide-set nipples, single transverse palmar creases, and clinodactyly. Boys have undescended testes and hypoplastic scrotum. Congenital heart disease, hydronephrosis or renal hypoplasia was present in some of the cases.


  • Synonym(s):
    • Ring 10
    • Ring chromosome 10
  • Prevalence: <1 / 1 000 000
  • Inheritance: Not applicable or Unknown 
  • Age of onset: Neonatal, Antenatal
  • ICD-10: Q93.2
  • OMIM: -
  • UMLS: C0265438  C2931727
  • MeSH: C538086
  • GARD: 1322
  • MedDRA: -
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