Condition Lookup
Category:
Congenital and Genetic Disorders
Number of Conditions: 8
Hydrocephalus
Specialty: Neurology
Category: Congenital and Genetic Disorders
Symptoms:
headache; nausea and vomiting; blurred or double vision; balance issues; cognitive impairments; irritability (in infants); bulging fontanel (in infants); sleepiness; seizures
Root Cause:
Accumulation of cerebrospinal fluid (CSF) in the brain's ventricles, causing increased intracranial pressure.
How it's Diagnosed: videos
Diagnosed using brain imaging (e.g., CT or MRI) to detect enlarged ventricles.
Treatment:
Treated with surgical placement of a ventriculoperitoneal (VP) shunt or endoscopic third ventriculostomy (ETV).
Medications:
Medications like acetazolamide or furosemide may be used temporarily to reduce CSF production; these are carbonic anhydrase inhibitors and diuretics, respectively.
Prevalence:
How common the health condition is within a specific population.
Approximately 1-2 in 1,000 live births, with a higher prevalence in older adults with normal pressure hydrocephalus.
Risk Factors:
Factors or behaviors that increase the likelihood of developing the condition.
Congenital brain malformations, premature birth, brain infections, traumatic brain injury, intraventricular hemorrhage.
Prognosis:
The expected outcome or course of the condition over time.
Variable; with timely treatment, many patients have good outcomes, but delays or complications can result in significant morbidity.
Complications:
Additional problems or conditions that may arise as a result of the original condition.
Infection or malfunction of the shunt, over-drainage of CSF, developmental delays, persistent neurological deficits.
Tuberous Sclerosis
Specialty: Neurology
Category: Congenital and Genetic Disorders
Symptoms:
seizures; intellectual disabilities; behavioral issues; facial angiofibromas; hypopigmented skin patches; benign tumors in brain, heart, lungs, or kidneys
Root Cause:
Genetic mutation in TSC1 or TSC2 genes causing dysregulated cell growth and formation of benign tumors.
How it's Diagnosed: videos
Diagnosed through genetic testing and clinical criteria involving skin, brain, and organ findings.
Treatment:
Treated symptomatically with medications like mTOR inhibitors (e.g., everolimus), seizure management, and supportive therapies.
Medications:
Everolimus (mTOR inhibitor), antiepileptic medications like vigabatrin or lamotrigine , and behavioral medications for associated psychiatric symptoms.
Prevalence:
How common the health condition is within a specific population.
Affects 1 in 6,000 individuals.
Risk Factors:
Factors or behaviors that increase the likelihood of developing the condition.
Autosomal dominant inheritance or spontaneous genetic mutation.
Prognosis:
The expected outcome or course of the condition over time.
Lifespan can be normal with proper management; developmental and neurological challenges depend on severity.
Complications:
Additional problems or conditions that may arise as a result of the original condition.
Kidney disease, pulmonary complications, seizures, developmental delays, and heart arrhythmias.
Chiari Malformation
Specialty: Neurology
Category: Congenital and Genetic Disorders
Symptoms:
headache (worsened by coughing or straining); neck pain; balance problems; dizziness; numbness or weakness in limbs; difficulty swallowing; tinnitus; breathing irregularities
Root Cause:
Structural defect causing the cerebellum to extend into the spinal canal, disrupting normal CSF flow.
How it's Diagnosed: videos
Diagnosed with MRI to visualize brain and spinal cord abnormalities.
Treatment:
Treated with surgical decompression in symptomatic cases.
Medications:
Pain management with NSAIDs or prescription analgesics; muscle relaxants for associated muscle spasms.
Prevalence:
How common the health condition is within a specific population.
Estimated at 1 in 1,000 individuals, though many cases are asymptomatic.
Risk Factors:
Factors or behaviors that increase the likelihood of developing the condition.
Congenital brain malformations, genetic predispositions.
Prognosis:
The expected outcome or course of the condition over time.
Good with early surgical intervention for severe cases; some mild cases remain asymptomatic for life.
Complications:
Additional problems or conditions that may arise as a result of the original condition.
Hydrocephalus, syringomyelia, chronic pain, or neurological deficits if untreated.
Dandy-Walker Syndrome
Specialty: Neurology
Category: Congenital and Genetic Disorders
Symptoms:
developmental delays; progressive head enlargement; irritability; vomiting; unsteady gait; seizures
Root Cause:
Congenital malformation of the cerebellum and fourth ventricle, causing CSF obstruction.
How it's Diagnosed: videos
Diagnosed using prenatal or postnatal imaging (MRI or ultrasound).
Treatment:
Treated with shunting for hydrocephalus and supportive therapies for developmental delays.
Medications:
Antiepileptics for seizure management if present.
Prevalence:
How common the health condition is within a specific population.
Rare; approximately 1 in 25,000–35,000 live births.
Risk Factors:
Factors or behaviors that increase the likelihood of developing the condition.
Chromosomal abnormalities, maternal infections, genetic predispositions.
Prognosis:
The expected outcome or course of the condition over time.
Varies; with proper management, children may lead functional lives, but developmental challenges are common.
Complications:
Additional problems or conditions that may arise as a result of the original condition.
Cognitive impairments, motor deficits, hydrocephalus, and seizures.
Sturge-Weber Syndrome
Specialty: Neurology
Category: Congenital and Genetic Disorders
Symptoms:
port-wine stain birthmark on the face; seizures; developmental delays; glaucoma; weakness on one side of the body
Root Cause:
Sporadic mutation in the GNAQ gene causing abnormal blood vessel development in the brain, skin, and eyes.
How it's Diagnosed: videos
Diagnosed clinically by port-wine stains and confirmed with brain imaging (MRI).
Treatment:
Treated with seizure management, laser therapy for skin lesions, and supportive care for neurological symptoms.
Medications:
Anti-epileptics like levetiracetam or carbamazepine ; medications for glaucoma such as prostaglandin analogs or beta-blockers.
Prevalence:
How common the health condition is within a specific population.
Rare; approximately 1 in 20,000–50,000 live births.
Risk Factors:
Factors or behaviors that increase the likelihood of developing the condition.
No known inheritance; sporadic mutation during development.
Prognosis:
The expected outcome or course of the condition over time.
Depends on severity; good seizure control and timely glaucoma treatment improve outcomes.
Complications:
Additional problems or conditions that may arise as a result of the original condition.
Chronic seizures, intellectual disability, vision loss, stroke-like episodes.
Neurofibromatosis (Type 1)
Specialty: Neurology
Category: Congenital and Genetic Disorders
Symptoms:
café-au-lait spots; neurofibromas on the skin; learning disabilities; optic gliomas; scoliosis
Root Cause:
Mutation in the NF1 gene causing abnormal cell growth.
How it's Diagnosed: videos
Diagnosed by clinical criteria (e.g., café-au-lait spots, neurofibromas) and genetic testing.
Treatment:
Treated symptomatically, with surgery or targeted therapy (e.g., selumetinib) for complications.
Medications:
Pain relief and seizure medications if required; bevacizumab (VEGF inhibitor) for tumor growth in NF2.
Prevalence:
How common the health condition is within a specific population.
1 in 3,000 individuals.
Risk Factors:
Factors or behaviors that increase the likelihood of developing the condition.
Autosomal dominant inheritance or spontaneous mutations.
Prognosis:
The expected outcome or course of the condition over time.
Varies; life expectancy can be normal with management, but tumor-related complications may arise.
Complications:
Additional problems or conditions that may arise as a result of the original condition.
Malignant transformation of neurofibromas, hearing loss, vision loss, and neurological deficits.
Neurofibromatosis (Type 2)
Specialty: Neurology
Category: Congenital and Genetic Disorders
Symptoms:
hearing loss; balance problems; tinnitus; schwannomas; vision issues
Root Cause:
Mutation in the NF2 gene leading to benign tumors on cranial and spinal nerves.
How it's Diagnosed: videos
Diagnosed through clinical evaluation, imaging (MRI), and genetic testing.
Treatment:
Treated with monitoring, surgical removal of tumors, and targeted therapies like bevacizumab.
Medications:
Pain relief and seizure medications if required; bevacizumab (VEGF inhibitor) for tumor growth in NF2.
Prevalence:
How common the health condition is within a specific population.
1 in 25,000 individuals.
Risk Factors:
Factors or behaviors that increase the likelihood of developing the condition.
Autosomal dominant inheritance or spontaneous mutations.
Prognosis:
The expected outcome or course of the condition over time.
Varies; life expectancy can be normal with management, but tumor-related complications may arise.
Complications:
Additional problems or conditions that may arise as a result of the original condition.
Malignant transformation of neurofibromas, hearing loss, vision loss, and neurological deficits.
Leigh’s Syndrome
Specialty: Neurology
Category: Congenital and Genetic Disorders
Symptoms:
loss of motor skills; seizures; difficulty breathing; poor muscle tone; failure to thrive; vomiting; weakness
Root Cause:
Mutations in mitochondrial or nuclear DNA affecting energy production (oxidative phosphorylation).
How it's Diagnosed: videos
Diagnosed via genetic testing, brain MRI, and metabolic studies.
Treatment:
Treated symptomatically with supportive care and experimental therapies, as no cure exists.
Medications:
None curative; symptom management includes anti-epileptics like levetiracetam and supportive supplements.
Prevalence:
How common the health condition is within a specific population.
Estimated at 1 in 40,000 live births.
Risk Factors:
Factors or behaviors that increase the likelihood of developing the condition.
Inherited mitochondrial or nuclear gene mutations.
Prognosis:
The expected outcome or course of the condition over time.
Poor; most patients do not survive beyond childhood.
Complications:
Additional problems or conditions that may arise as a result of the original condition.
Respiratory failure, severe neurological decline, and organ dysfunction.