McDonough syndrome

Orpha code: 2471OMIM code: 248950

Definition

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.

Disease data
Classification

Malformation syndrome

ORPHA code
2471
OMIM code
248950
ICD10 code
Q87.8
ICD11 code
LD2F.1Y

No additional description.

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