Symptoms of de Grouchy Syndrome
De Grouchy syndrome manifests clinically as mental retardation. The affected person will have a short stature, hypotonia (lack of muscle tone), hearing impairment, and foot deformities. Poor coordination, nystagmus (involuntary eye movement), seizures, a small head, underdeveloped mid-face, deep set eyes, a carp-shaped mouth, and autistic behavior. Foot deformities include clubfoot and abnormal toe placement. There are also many abnormalities related to sexual development. An underdeveloped labia minora, undescended testes, small scrotum and penis are some of these.
Less common symptoms include inner epicanthal folds, slanted spaces between the eyelids, widely spaced eyes and small eyes, and corneal abnormalities.
The symptoms of de Grouchy syndrome have no direct connection with a single gene. As several genes can be lost, it may be that different symptoms are caused by the loss of specific genes.