Congenital spinal anomalies are defects or malformations of the spine that are present at birth. These defects are categorized as malformations, disruptions, or deformations.
- Malformation: Complete absence or improper formation of vertebrae (single or multiple) during formation of the spine.
- Disruption: A defect in or damage to a spine that formed normally during embryonic development.
- Deformation: Abnormal shape of a vertebra or the entire spine that occurred during embryonic development.
Commonly Occurring Vertebral Anomalies
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Congenital Scoliosis
Lateral curving of the spine that occurs in children whose vertebrae are abnormally formed during their development in the womb. This abnormality develops in the fetus at 4 to 6 weeks of gestation.
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Congenital Kyphosis
A condition which occurs as a result of segmentation failure or a defect in the formation of the vertebrae which causes forward bending of the spine resulting in a hunchback appearance. If left untreated, severe kyphosis can leads to paraplegia, a condition where there is loss of movement and sensation in the lower body.
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Congenital Lordosis
Inward curving of the spine which if severe enough, can make it difficult for a child to sit, stand, or walk. If the condition occurs in the thoracic (upper) region of spine, the distance between the spine and chest is reduced and the child may have respiratory problems. If lordosis occurs in the lumbar (lower back) region the spine may approach the abdominal wall.
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Sacral and Lumbosacral Agenesis
A rare condition that occurs when the sacrum (lower spine) fails to form properly. Severe cases of sacral agenesis can lead to lumbosacral agenesis, the partial or complete absence of lumbar vertebrae and lower thoracic vertebrae. Maternal diabetes and deficiencies in a mother’s diet can cause sacral agenesis.
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Basilar Impression
A deformity of the bones at the base of the skull that occurs when the base of the skull is pressed by the upper portion of the cervical spine. This condition may cause neurological damage due to a disruption of the flow of cerebrospinal fluid. Primary basilar impression is associated with other vertebral defects such as Klippel-Feil syndrome, odontoid anomalies, and atlas hypoplasia. Secondary basilar impression occurs when the osseous structures at the base of the skull becomes soft.
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Occipitocervical Synostosis
A condition characterized by partial or complete union of the first cervical vertebra atlas and the base of the occiput of the skull (occipitalization of the atlas). Common symptoms include weakness and lack of coordination in the lower limbs and sometimes in the upper limbs. Some children may develop symptoms after trauma but many children do not experience symptoms at any point in life.
