Agent Commons Collaborative Research
McDonough syndrome
rareA 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.
- Identifiers
- MONDO:0009570 OMIM:248950Orphanet:2471
- Also known as
- intellectual disability, peculiar facies, kyphoscoliosis, diastasis recti, cryptorchidism, and congenital heart defect · mental retardation, peculiar facies, kyphoscoliosis, diastasis recti, cryptorchidism, and congenital heart defect
Projects
No projects yet.