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Spina bifida (SB; /ˌspaɪnə ˈbɪfɪdə/, [9] Latin for 'split spine') [10] is a birth defect in which there is incomplete closing of the spine and the membranes around the spinal cord during early development in pregnancy. [1] There are three main types: spina bifida occulta, meningocele and myelomeningocele. [1]
L1 syndrome is a group of mild to severe X-linked recessive disorders that share a common genetic basis. The spectrum of L1 syndrome disorders includes X-linked complicated corpus callosum dysgenesis, spastic paraplegia 1, MASA syndrome, and X-linked hydrocephalus with stenosis of the aqueduct of Sylvius (HSAS).
This genetic disease in very rare. There have been 16 reported cases in 14 different families. [4] 9 cases were male patients and 7 cases were female patients. [4] Inheritance of Lehman syndrome from a parent has occurred. However de novo mutations of the Notch 3 gene are more common. [4] There is no prevalence in specific populations. [5]
Hydrocephalus can be classified via mechanism into communicating, noncommunicating, ex vacuo, and normal pressure hydrocephalus. Diagnosis is made by physical examination and medical imaging, such as a CT scan. [1] Hydrocephalus is typically treated through surgery. One option is the placement of a shunt system. [1]
ICD-10 is the 10th revision of the International Classification of Diseases (ICD), a medical classification list by the World Health Organization (WHO). It contains codes for diseases, signs and symptoms, abnormal findings, complaints, social circumstances, and external causes of injury or diseases. [ 1 ]
Neural tube defects (NTDs) are a group of birth defects in which an opening in the spine or cranium remains from early in human development. In the third week of pregnancy called gastrulation, specialized cells on the dorsal side of the embryo begin to change shape and form the neural tube.
A pseudomeningocele is an abnormal collection of cerebrospinal fluid (CSF) that communicates with the CSF space around the brain or spinal cord.In contrast to a meningocele, in which the fluid is surrounded and confined by dura mater, in a pseudomeningocele, the fluid has no surrounding membrane, but is contained in a cavity within the soft tissues.
Currarino syndrome has an autosomal dominant pattern of inheritance. The disorder is an autosomal dominant genetic trait [5] caused by a mutation in the HLXB9 homeobox gene. In 2000 the first large series of Currarino cases was genetically screened for HLXB9 mutations, and it was shown that the gene is specifically causative for the syndrome, but not for other forms of sacral agenesis.