Click on the individual disease states to find a parent/caregiver connection.
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Arachnoid Cysts are sacs filled with spinal fluid that are located between the brain or spinal cord and the arachnoid membrane, one of the three membranes that cover the brain and spinal cord. They are the most common type of brain cyst and are often congenital or present at birth.
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Benign external hydrocephalus, also known as external hydrocephalus or benign extra-axial fluid collection, is a condition characterized by the accumulation of cerebrospinal fluid (CSF) in the subdural space, which is the area between the brain and the outermost membrane covering the brain called the dura mater.
In infants and young children, the skull bones are not yet fully fused, allowing the brain to grow and develop. In some cases, there can be an imbalance between CSF production and absorption, leading to the buildup of fluid in the subdural space. This condition primarily affects infants and toddlers, usually between the ages of 3 months and 2 years.
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Chiari malformation is a structural defect in the cerebellum, which is the part of the brain responsible for balance and coordination. In Chiari malformation, the lower part of the cerebellum, called the cerebellar tonsils, extends into the space at the base of the skull, known as the foramen magnum. This can cause compression and disruption of normal brain tissue and the flow of cerebrospinal fluid (CSF), which surrounds and protects the brain and spinal cord. There are four different types of Chiari.
Type 1: Kristin Lashoff
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Dandy-Walker Syndrome (DWS) is a congenital condition where the cerebellum does not develop normally.
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A dermal sinus tract, also known as a dermal sinus or dermal pit, is a congenital abnormality in which a small channel or passage forms in the skin, extending from the surface down to the spinal cord or the meninges (the protective layers surrounding the spinal cord). This condition is typically present at birth, although it may go unnoticed until symptoms develop or are discovered incidentally.
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HNRNPU is a gene on chromosome 1q44 that encodes a protein called heterogenous nuclear ribonucleoprotein U (hnRNPU). The heterogenous nuclear ribonucleoproteins (hnRNP) are a group of proteins with roles in DNA and RNA processing. The hnRNPU protein has several roles, including in alternative splicing, in which RNA is trimmed and re-organized before being translated into a protein. HnRNPU is expressed in various organs within the body, including the brain, and mutations in the gene can cause neurodevelopmental delays and epilepsy.
Suzanne Recer
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Hydrocephalus is a condition characterized by an excessive accumulation of cerebrospinal fluid (CSF) in the ventricles of the brain. CSF is a clear fluid that surrounds and cushions the brain and spinal cord, providing protection and nourishment. Hydrocephalus occurs when there is an imbalance between the production, circulation, and absorption of CSF, resulting in an increased volume and pressure within the ventricles.
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Leukodystrophies are a group of rare, genetic disorders that affect the white matter of the brain. The word leukodystrophy comes from leuko, which means white, and dystrophy, which means imperfect growth. Leukodystrophies are characterized by this abnormal growth of white matter in the brain.
Ashley Dike
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Lipomyelomeningocele is a type of spinal dysraphism, which is a congenital abnormality involving the spine and spinal cord. It is characterized by the presence of a fatty mass or lipoma that is attached to the spinal cord and extends through a defect in the bones of the spine. This condition is considered a form of spina bifida.
Brynn Turner
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The condition is caused by a breakdown in communication between nerves and muscles.
Symptoms include weakness in the arm and leg muscles, double vision, and difficulties with speech and chewing.
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PYROXD1 (Pyridine Nucleotide-Disulphide Oxidoreductase Domain 1) is a Protein Coding gene. Diseases associated with it present as extremely rare and progressive forms of muscular dystrophy. Less than 20 people worldwide have this specific mutation.
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Spina bifida is a birth defect that occurs when the spine and spinal cord don't form properly. It's a type of neural tube defect.
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Tethered cord syndrome (TCS) is a condition characterized by an abnormal attachment or fixation of the spinal cord within the spinal canal. Normally, the spinal cord freely moves within the canal as a person grows. In TCS, however, the spinal cord is abnormally stretched or pulled due to attachments, resulting in tension and potential damage to the spinal cord and nerve roots.
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A rare chromosomal disorder characterized by mild to moderate developmental delay, brachydactyly of the third to fifth digits or toes, short stature, obesity, hypotonia, a characteristic facial appearance, and autism spectrum disorder.