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Distal monosomy 17q

Disease definition

A partial deletion of the long arm of chromosome 17 characterized by hypotonia, growth delay, severe global developmental delay, microcephaly, seizures, congenital heart anomalies, hand and foot anomalies (syndactyly, symphalangism) and dysmorphic facial features, including round face, hypertelorism, upslanting palpebral fissures, and micrognathia. Reported deletions involve regions 17q21-q24.

ORPHA:1597

Classification level: Disorder
  • Synonym(s):
    • Distal 17q deletion
    • Monosomy 17qter
    • Telomeric deletion 17q
  • Prevalence: Unknown
  • Inheritance: Not applicable or Unknown 
  • Age of onset: Neonatal
  • ICD-10: Q93.5
  • OMIM: -
  • UMLS: -
  • MeSH: -
  • GARD: 10972
  • MedDRA: -

Additional information

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