Incidence and Prevalence
- 130 per 100,000 births: The incidence of Down syndrome is estimated at 1 per 733 births, although it is statistically more common with older parents (both mothers and fathers) because of increased mutagenic exposures upon some older parents’ reproductive cells (27).
- 2.5 per 100,000 births: The incidence of Klippel-Feil syndrome is estimated to be approximately 1 in 40,000 births (24).
- 4 per 100,000 births: The incidence of achondroplasia is estimated to be approximately 1 in 25,000 (28).
Neurofibromatosis type 1
- 30 per 100,000 births: The incidence of NF-1 is estimated to be about 1 in 3500 live births (8).
- Unknown: The incidence of os odontoideum is unknown.
Common skeletal dysplasias
- Morquio syndrome (mucopolysaccharidosis IV): The incidence of Morquio syndrome is unknown.
- Spondyloepiphyseal dysplasia: The incidence of spondyloepiphyseal dysplasia is unknown.
- Diastrophic dwarfism: The incidence of diastrophic dwarfism is unknown.
- Osteogenesis imperfecta, type III or IV: The incidences of all forms of osteogenesis imperfecta are unknown.
- Congenital but presenting at any age: Although congenital spine anomalies are present at birth, they can be discovered at any time during a child’s life depending upon clinical circumstances.
- Not known: There is no known sex predilection for congenital cervical spine anomalies.
- Not known: There is no known geographic distribution for congenital spine anomalies.
- Not known: There are no known environmental risk factors for congenital spinal anomalies, although given the broad nature of the disease, exposure to teratogens in utero could have deleterious effects on the maturing spine.
Relationships to Other Disease States and Syndromes
- Part of syndrome: Congenital spine anomalies are commonly associated with other constitutional disease states or syndromes and are sometimes a major component of them. Examples include Down syndrome, Klippel-Feil syndrome, and NF1.
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