OBSOLETE: Upper thoracic spina bifida aperta

Upper thoracic spina bifida aperta is an obsolete Orphanet classification (Orphanet code 268740) that previously referred to a specific anatomical subtype of spina bifida aperta (open spina bifida) localized to the upper thoracic region of the spine. Spina bifida aperta is a neural tube defect in which the vertebral arches fail to close properly during embryonic development, leaving the spinal cord and its coverings exposed. When occurring in the upper thoracic spine (approximately vertebrae T1–T6), this defect can result in a visible open lesion on the upper back, with potential herniation of the meninges and spinal cord tissue (myelomeningocele). This condition primarily affects the nervous system and musculoskeletal system, and depending on the severity and level of the lesion, it may lead to motor and sensory deficits in the trunk and lower extremities, bowel and bladder dysfunction, and risk of central nervous system infections such as meningitis. Hydrocephalus and Chiari II malformation are commonly associated findings. This term has been rendered obsolete in Orphanet's classification, and the condition is now grouped under broader spina bifida aperta categories. Management typically involves surgical closure of the defect shortly after birth, treatment of hydrocephalus (often with ventriculoperitoneal shunting), and long-term multidisciplinary care including neurology, urology, orthopedics, and rehabilitation. Prenatal folic acid supplementation is a well-established preventive measure that significantly reduces the risk of neural tube defects.

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