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Lateral meningocele syndrome, also known as Lehman syndrome, [2] is a very rare skeletal disorder with facial anomalies, hypotonia, and meningocele-related neurologic dysfunction. [3] These protrusions form from membranes surrounding the spinal cord in gaps in the spine (vertebrae). [ 4 ]
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).
MELAS is a condition that affects many of the body's systems, particularly the brain and nervous system (encephalo-) and muscles (myopathy). In most cases, the signs and symptoms of this disorder appear in childhood following a period of normal development. [4]
Developmental disorders including neural-tube defects, arachnoid cysts, Dandy–Walker syndrome, and Arnold–Chiari malformation can also cause primary hydrocephalus. About 80–90% of fetuses or newborn infants with the neural-tube defect spina bifida —often associated with meningocele or myelomeningocele —develop hydrocephalus.
[5] [11] DWM is the cause of around 4.3% of cases of congenital hydrocephalus [14] and 2.5% of all cases of hydrocephalus. [ 6 ] A 2017 review found that most patients (65%) were diagnosed with either "Dandy–Walker malformation" or "Dandy–Walker syndrome", while 20% were diagnosed with "Dandy–Walker variant" and 1.1% with "mega cisterna ...
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Incontinentia pigmenti (IP) is a rare X-linked dominant genetic disorder that affects the skin, hair, teeth, nails and central nervous system. It is named from its appearance under a microscope. It is named from its appearance under a microscope.