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Distal monosomy 3p

Disease definition

Distal monosomy 3p is a rare chromosomal anomaly syndrome, resulting from a partial deletion of the short arm of chromosome 3, with a highly variable phenotype typically characterized by pre- and post-natal growth retardation, intellectual disability, developmental delay and craniofacial dysmorphism (microcephaly, trigonocephaly, downslanting palpebral fissures, telecanthus, ptosis, micrognathia). Postaxial polydactyly, hypotonia, renal anomalies and congenital heart defects (e.g. atrioventricular septal defect) may be associated.

ORPHA:1620

Classification level: Disorder
  • Synonym(s):
    • 3p- syndrome
    • Distal 3p deletion
    • Monosomy 3pter
    • Telomeric monosomy 3p
  • Prevalence: <1 / 1 000 000
  • Inheritance: -
  • Age of onset: Antenatal, Neonatal
  • ICD-10: Q93.5
  • OMIM: 613792
  • UMLS: -
  • MeSH: -
  • GARD: 3750
  • MedDRA: -

Detailed information

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