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McDonough syndrome

ORPHA2471
Synonym(s) -
Prevalence -
Inheritance -
Age of onset -
ICD-10
  • Q87.8
OMIM
UMLS
  • C0796038
MeSH
  • C538158
MedDRA -

Summary

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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