McDonough syndrome is a rare, multiple congenital anomalies/dysmorphic syndrome characterized by facial dysmorphsim (prominent superciliary arcs, synophrys, strabismus, large, anteverted ears, large nose, malocclusion of teeth), delayed psychomotor development, intellectual disability and congenital heart defects (e.g. pulmonic stenosis, patent ductus arteriosus, atrial septal defect). Additional features include thorax deformation (pectus excavatum/carinatum), kyphoscoliosis, diastasis recti and cryptorchidism. There have been no further descriptions in the literature since 1984.
Testis in inguinal canal. That is, absence of one or both testes from the scrotum owing to failure of the testis or testes to descend through the inguinal canal to the testis.
Mentally retarded siblings with congenital heart defect, peculiar facies and cryptorchidism in the male: possible McDonough syndrome with coincidental (X; 20) translocation.
Garcia-Sagredo JM, Lozano C, Ferrando P, San Roman C. Clin Genet. 1984;26(2):117-24.
Mentally retarded siblings with congenital heart defect, peculiar facies and cryptorchidism in the male: possible McDonough syndrome with coincidental (X; 20) translocation.