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McDonough syndrome

Disease definition

McDonough syndrome belongs to the group of multiple congenital anomalies/mental retardation (MCA/MR) syndromes and is characterised by intellectual deficit, distinctive facies (upward slanting palpebral fissures, squint), kyphoscoliosis, diastasis recti, cryptorchidism, and a congenital heart defect. Two families have been reported. Autosomal recessive inheritance was suggested.


  • Synonym(s): -
  • Prevalence: <1 / 1 000 000
  • Inheritance: -
  • Age of onset: Neonatal, Infancy
  • ICD-10: Q87.8
  • OMIM: 248950
  • UMLS: C0796038
  • MeSH: C538158
  • GARD: 3424
  • MedDRA: -

Additional information

Specialised Social Services

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