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Ring chromosome 10

Synonym(s) -
Prevalence <1 / 1 000 000
Inheritance Not applicable
or Unknown
Age of onset Neonatal
  • Q93.2
  • C0265438
  • C2931727
  • C538086
MedDRA -


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.

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