McDonough syndrome
From Wikipedia, the free encyclopedia
Other namesMental retardation, peculiar facies, kyphoscoliosis, diastasis recti, cryptorchidism, and congenital heart defect
Symptomsfacial dysmorphisms, psychomotor delays, intellectual disabilities, and congenital heart defects
Usual onsetConception
| McDonough syndrome | |
|---|---|
| Other names | Mental retardation, peculiar facies, kyphoscoliosis, diastasis recti, cryptorchidism, and congenital heart defect |
 | |
| Specialty | Medical genetics |
| Symptoms | facial dysmorphisms, psychomotor delays, intellectual disabilities, and congenital heart defects |
| Usual onset | Conception |
| Duration | Lifelong |
| Prevention | none |
| Prognosis | Ok |
| Frequency | very rare, only 6 cases from three families in the U.S., Spain and India have been described in medical literature |
| Deaths | - |
McDonough syndrome, also known as Intellectual disability, peculiar facies, kyphoscoliosis, diastasis recti, cryptorchidism, and congenital heart defect is a very rare multi-systemic genetic disorder which is characterized by facial dysmorphisms, psychomotor delays, intellectual disabilities, and congenital heart defects. Additional findings include either pectus excavatum or pectus carinatum, kyphoscoliosis, diastasis recti and cryptorchidism.[1]