Other syndromes
With the exception of cerebral palsy the following syndromes are uncommon
Click on the links below for details of each syndrome. If there is no link to additional information, Decision makers are advised to discuss the case with the Departments Medical Services provider.
| Syndrome | Cause |
|---|---|
| Angelman syndrome (Medline Plus) | Chromosome abnormality |
| Cerebral palsy (NHS Choices) | Brain damage around time of birth – multiple potential causes |
| Cytomegalovirus (Medline Plus) | Infection in pregnancy |
| Foetal Alcohol syndrome (Medline Plus) | Alcohol excess in pregnancy |
| Homocystinuria (Medline Plus) | Inborn error of metabolism |
| Hydrocephalus (NHS Choices) | Excess cerebrospinal fluid in brain due to obstruction of drainage system. 80% of people with spina bifida have hydrocephalus. |
| Hurler syndrome (one of a group of the Mucopolysaccharidoses diseases) (Medline Plus) | Inborn error of metabolism |
| Klinefelter’s syndrome (Medline Plus) | Chromosome abnormality |
| Lesch – Nyan syndrome | Disorder of uric acid metabolism |
| Neurofibromatosis (NHS Choices) | Genetic disorder causing tumour growth on peripheral nerves [neurofibromata] |
| Phenylketonuria (NHS Choices) | Inborn error of metabolism |
| Prader – Willi syndrome (Medline Plus) | Chromosome abnormality |
| Rett syndrome (Medline Plus) | X chromosome abnormality |
| Sturge – Weber syndrome (Medline Plus) | Sporadic |
| Tay – Sachs disease (NHS Choices) | Disorder of lipid metabolism |
| Triple X syndrome (Medline Plus) | Chromosome abnormality |
| Trisomy 13 also called Patau syndrome (Medline Plus) | Chromosome abnormality |
| Trisomy 18 also called Edwards syndrome (Medline Plus) | Chromosome abnormality |
| Tuberous sclerosis (NHS Choices) | Chromosome abnormality |
| Turner syndrome (NHS Choices) | Chromosome abnormality |
Amended September 2009
