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14q22q23 microdeletion syndrome

Disease definition

14q22q23 microdeletion syndrome is a rare partial deletion of the long arm of chromosome 14 characterized by ocular anomalies (anopthalmia/microphthalmia, ptosis, hypertelorism, exophthalmos), pituitary anomalies (pituitary hypoplasia/aplasia with growth hormone deficiency and growth retardation) and hand/foot anomalies (polydactyly, short digits, pes cavus). Other clinical features may include muscular hypotonia, psychomotor development delay/intellectual disability, dysmorphic signs (facial asymmetry, microretrognathia, high-arched palate, ear anomalies), congenital genitourinary malformations, hearing impairment. Smaller 14q22 deletions may have variable expression.

ORPHA:264200

Classification level: Disorder
  • Synonym(s):
    • 14q22-q23 microdeletion syndrome
    • Del(14)(q22q23)
    • Monosomy 14q22-q23
    • Monosomy 14q22q23
  • Prevalence: <1 / 1 000 000
  • Inheritance: -
  • Age of onset: Neonatal, Infancy
  • ICD-10: Q93.5
  • OMIM: 609640
  • UMLS: -
  • MeSH: -
  • GARD: -
  • MedDRA: -
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