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KFS is associated with many other abnormalities of the body, hence thorough evaluation of all patients with fused cervical vertebrae at birth is required. Furthermore, it is unclear whether KFS is a unique disease, or if it is one part of a spectrum of congenital spinal deformities. [citation needed] KFS is usually diagnosed after birth.
It is a congenital disorder in which the fetal development of the lower spine—the caudal partition of the spine—is abnormal. [1] It occurs at a rate of approximately one per 60,000 live births. [2] Some babies are born with very small differences compared to typical development, and others have significant changes.
Hemivertebrae are wedge-shaped vertebrae and therefore can cause an angle in the spine (such as kyphosis, scoliosis, and lordosis). Among the congenital vertebral anomalies, hemivertebrae are the most likely to cause neurologic problems. [5] The most common location is the midthoracic vertebrae, especially the eighth (T8). [6]
[1] [3] [4] They may be born with congenital vertebral anomalies; parts of the spine may be fused and fail to segment. [4] There may also be extra vertebrae in the lower back. [5] [7] Some of those affected have been reported to have premature fusion of the skull bones (craniosynostosis), particularly those across the midline and at the front ...
Cardiospondylocarpofacial syndrome manifests itself in many different areas of the body. It causes heart defects, multiple congenital anomalies, and dysmorphic features. The following is a list of the symptoms most commonly exhibited: [1] Variable vertebral anomalies; Brachydactyly; Conductive hearing loss; High palate; Mitral regurgitation ...
There are three common anomalies predominately observed in 13q deletion syndrome: congenital heart disease, anorectal/genitourinary, and gastrointestinal tract malformations. These are all part of the VACTERL associations which is a disorder that is characterized by vertebral anomalies, anal atresia, cardiac defect, tracheoesphageal fistula ...
Diastematomyelia is a "dysraphic state" of unknown embryonic origin, but is probably initiated by an accessory neurenteric canal (an additional embryonic spinal canal.).) This condition may be an isolated phenomenon or may be associated with other segmental anomalies of the vertebral bodies such as spina bifida, kyphoscoliosis, butterfly vertebra, hemivertebra and block vertebrae which are ...
C - Cardiovascular anomalies; T - Tracheoesophageal fistula; E - Esophageal atresia; R - Renal (Kidney) and/or radial anomalies; L - Limb defects; Although it was not conclusive whether VACTERL should be defined by at least two or three component defects, [4] it is typically defined by the presence of at least three of the above congenital ...