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Spina bifida is a neural tube defect and is a developmental anomaly which occurs very early in pregnancy. The neural tube develops to form the spinal cord, brain and spine. When Spina Bifida occurs, the tube is split and one or more vertebrae (small bones of the back) fail to form properly, thus leaving a gap.

There are three main types of spina bifida. Spina bifida occulta where the only sign of the malformation is a dimple or hair at the site of the defect on the skin of the back. This condition is very mild and is usually symptom less although occasionally there may be continence problems and difficulties with mobility.

In Spina bifida cystica a sac or cyst is visible on the back covered by a thin layer of skin. There are two forms: a meningocele and a myelomeningocele. In a meningocele the sac contains tissues which cover the spinal cord and cerebro-spinal fluid. The nerves are not normally badly damaged and there is little or no malfunction. This is the least common form of spina bifida. Myelomeningocele is the most common and severest form and is characterised by the inclusion in the sac of nerves and part of the spinal cord as well as tissue and cerebral-spinal fluid. Some degree of paralysis and loss of sensation occur below the site of the defect. The extent of the disability is dependent upon the extent of nerve damage.

Cranium bifida is a failure of development of the bones of the skull. In this form the sac is called an encephalocele. In some cases part of the brain is also enclosed in the sac while in others it contains only tissue and cerebro-spinal fluid. Anencephaly (absent brain) and iniencephaly (badly malformed brain) may also occur and in such cases the child will not survive.

Hydrocephalus is caused by an imbalance between the production and absorption of cerebro-spinal fluid in the brain. About 80% of people with Spina Bifida have Hydrocephalus.

Inheritance patterns Spina bifida has some genetic predisposition. Where a couple has an affected child there is a 1 in 25 chance of an affected pregnancy. For an affected person the risk of an affected child is 1 in 25.