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Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to 10p11.21p12.31 microdeletion

Disease definition

A rare, genetic syndromic intellectual disability characterized by developmental delay, hypotonia, speech delay, mild to moderate intellectual disability, abnormal behavior (autistic, aggressive, hyperactive) and dysmorphic facial features, including synophrys or thick eyebrows, deep set eyes, bulbous nasal tip and full cheeks. Congenital heart and brain anomalies, visual and hearing impairment are also common.

ORPHA:284169

Classification level: Subtype of disorder
  • Synonym(s):
    • 10p12p11 microdeletion syndrome
    • Del(10)(p11.21p12.31)
    • Deletion 10p11.21p12.31
    • Desanto-Shinawi syndrome due to 10p11.21p12.31 microdeletion
    • Monosomy 10p11.21p12.31
  • Prevalence: <1 / 1 000 000
  • Inheritance: Not applicable or Unknown 
  • Age of onset: Infancy
  • ICD-10: Q87.8
  • OMIM: 616708
  • UMLS: -
  • MeSH: -
  • GARD: -
  • MedDRA: -

  A summary on this disease is available in Español (2018) Français (2018) Italiano (2018) Nederlands (2018)

Detailed information

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Disease review articles

ERN produced/endorsed by ERN(s)   FSMR produced/endorsed by FSMR(s)

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