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Ring chromosome 10

Orpha number ORPHA1438
Synonym(s) -
Prevalence <1 / 1 000 000
Inheritance Not applicable
Unknown
Age of onset Antenatal
Neonatal
ICD-10
  • Q93.2
ICD-O -
OMIM -
UMLS
  • C0265438
  • C2931727
MeSH
  • C538086
MedDRA -

Summary

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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