- Congenital Diseases
A rare genetic condition that predisposes mainly benign tumors to develop in different parts of the body. Symptoms include; epilepsy, infantile spasms, leaning disabilities, behavioural and developmental disorders, skin lesions, tumors of the heart, kidney, skin, eye, and lung. Treatment will depend upon developing symptoms. Requires multidisciplinary support, but in particular control of the seizures. Regular monitoring throughout their lifespan.
Congenital central Nervous System Abnormalities
Associated with folate deficiency during initial gestation.
Spina bifida; failure of the posterior end of the neural tube to close., can cause a wide range of symptoms affecting; cognitive, bowel and bladder, and mobility. Treatment will involve surgery to repair the spine and support dependent upon the severity of the other symptoms.
Encephalocele, defect in the cranium resulting in cranofacial abnormalities. Symptoms may include hydrocephalus, paralysis of the limbs, an abnormally small head, uncoordinated muscle movement, developmental delay, vision problems, and seizures. Treatment includes reparative surgery, and multidisciplinary support throughout lifetime.
Anencephaly, a failure of closure of the anterior end of the neural tube. Results in an absence of fetal brain and often absence of overlying skull. Treatment is supportive.