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7q11.23 microduplication syndrome

Disease definition

7q11.23 microduplication syndrome is a rare chromosomal anomaly syndrome resulting from the partial duplication of the long arm of chromosome 7 characterized by a highly variable phenotype that typically manifests with mild-moderate intellectual delay (patients could be in the normal range), speech disorders (particularly of expressive language), and distinctive craniofacial features (brachycephaly, broad forehead, straight eyebows, broad nasal tip, short philtrum, thin upper lip and facial asymmetry). Hypotonia, developmental coordination disorders, behavioral problems (such as anxiety, ADHD and oppositional disorders) and various congenital anomalies, such as heart defects, diaphragmatic hernia, renal malformations and cryptorchidism, are frequently presented. Neurological abnormalities (visible on MRI) have been reported.

ORPHA:96121

Classification level: Disorder
  • Synonym(s):
    • Dup(7)(q11.23)
    • Trisomy 7q11.23
  • Prevalence: Unknown
  • Inheritance: -
  • Age of onset: Neonatal, Infancy
  • ICD-10: Q92.3
  • OMIM: 609757
  • UMLS: C1857844
  • MeSH: -
  • GARD: 12076
  • MedDRA: -

Detailed information

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