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Distal 22q11.2 microdeletion syndrome

Disease definition

Distal 22q11.2 microdeletion syndrome is a rare chromosomal anomaly syndrome resulting from the partial deletion of the long arm of chromosome 22 with a highly variable phenotype characterized by prematurity, pre- and post-natal growth retardation, developmental delay (particularly speech), mild intellectual disability, variable cardiac defects, and minor skeletal anomalies (such as clinodactyly). Dysmorphic features include prominent forehead, arched eyebrows, deep set eyes, narrow upslanting palpebral fissures, ear abnormalities, hypoplastic alae nasi, smooth philtrum, down-turned mouth, thin upper lip, retro/micrognatia and pointed chin. For certain very distal deletions, there is a risk of developing malignant rhabdoid tumours.

ORPHA:261330

  • Synonym(s):
    • Distal del(22)(q11.2)
    • Distal monosomy 22q11.2
  • Prevalence: Unknown
  • Inheritance: -
  • Age of onset: -
  • ICD-10: Q93.5
  • OMIM: 611867
  • UMLS: C2678480
  • MeSH: -
  • GARD: -
  • MedDRA: -

Additional information

Further information on this disease

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