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McDonough syndrome

Synonym(s) -
Prevalence <1 / 1 000 000
Inheritance -
Age of onset Neonatal
  • Q87.8
  • C0796038
  • C538158
MedDRA -


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.

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