AnatomyDiseasesChemicals and DrugsAnalytical, Diagnostic and Therapeutic Techniques and EquipmentPhenomena and ProcessesInformation ScienceNamed Groups
Abnormalities, MultipleNervous System MalformationsCentral Nervous SystemSyndromePregnancyArteriovenous MalformationsArnold-Chiari MalformationVascular MalformationsNervous SystemCongenital AbnormalitiesDown SyndromeCentral Nervous System DiseasesMetabolic Syndrome XMalformations of Cortical DevelopmentCystic Adenomatoid Malformation of Lung, CongenitalAbnormalities, Drug-InducedPeripheral Nervous SystemHemangioma, Cavernous, Central Nervous SystemBrainEnteric Nervous SystemCentral Nervous System NeoplasmsInfant, NewbornLimb Deformities, CongenitalNephrotic SyndromeUrogenital AbnormalitiesSjogren's SyndromeAutonomic Nervous SystemHeart Defects, CongenitalAnus, ImperforateDandy-Walker SyndromeSyringomyeliaSympathetic Nervous SystemTelangiectasia, Hereditary HemorrhagicTurner SyndromeNervous System DiseasesEye AbnormalitiesFoot Deformities, CongenitalMusculoskeletal AbnormalitiesNervous System Physiological PhenomenaMagnetic Resonance ImagingCraniofacial AbnormalitiesMutationHand Deformities, CongenitalCentral Nervous System Vascular MalformationsCardiovascular AbnormalitiesPhenotypeNeuronsCerebral VeinsCentral Nervous System InfectionsDigestive System AbnormalitiesDiGeorge SyndromeFetal DiseasesEmbolization, TherapeuticTeratogensPedigreeVein of Galen MalformationsNervous System NeoplasmsGene Expression Regulation, DevelopmentalMyelodysplastic SyndromesEctromeliaSpinal CordMolecular Sequence DataCushing SyndromeTomography, X-Ray Computed
HydrocephalusCerebralAbnormalitiesDisordersAnomaliesMega cisterna magnaMegacystis Microcolon Intestinal Hypoperistalsis SyndromeVascularCongenital malformationCentralSeizuresDandy-WalkerSporadicHypoplasiaAutosomal recessiveGeneticsSyndactylyCardiacSevereEpilepsyGeneticPfeifferApertMutationsSturge-Weber SyManifestationsAbnormalCharacteristicIntellectual DisabilityGoldenhar SyndromePatientsCancerEpidermalClinicallyRare
Hydrocephalus2
  • Macroencephaly is a congenital malformation in which expansion of the brain usually results from a variety of disorders, including hydrocephalus. (britannica.com)
  • Patients may have malformations of the corpus callosum and limbic structures with ventriculomegaly that leads to hydrocephalus. (contemporarypediatrics.com)
Cerebral4
  • Scientists at Recursion have already identified two possible therapies for cerebral cavernous malformation (CCM), a rare hereditary vascular disease that leads to hemorrhagic strokes--including an over-the-counter, vitamin D supplement (cholecalciferol). (sciencedaily.com)
  • CEDNIK (Cerebral dysgenesis, neuropathy, ichthyosis and keratoderma) syndrome is a rare condition that shows severe developmental failure of the nervous system and the epidermis. (genome.jp)
  • A mutation in SNAP29, coding for a SNARE protein involved in intracellular trafficking, causes a novel neurocutaneous syndrome characterized by cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma. (genome.jp)
  • 59. Cerebral malformations are diagnosed. (medscape.com)
Abnormalities9
  • Organ malformations include cardiac, renal and central nervous system abnormalities. (orpha.net)
  • This among codes Q00-Q99 (congenital malformations, deforma- activity was reviewed by CDC and was conducted consistent tions, and chromosomal abnormalities) of the International with applicable federal law and CDC policy. (cdc.gov)
  • First described by Wheaton 1 in 1894 and later by Apert in 1906, 2 Apert syndrome, or acrocephalosyndactyly, is an autosomal dominant malformation syndrome characterized by craniosynostosis, midface hypoplasia, syndactyly, and various visceral abnormalities. (contemporarypediatrics.com)
  • Eye abnormalities typically lead to impairment or loss of vision in people with Fraser syndrome. (curvesandchaos.com)
  • The prenatal ultrasound can reveal features like polyhydramnios or oligohydramnios, echogenic lungs, renal abnormalities or agenesis and cryptophthalmos that are pathognomonic of the Fraser Syndrome. (curvesandchaos.com)
  • Kabuki syndrome is a rare genetic disorder with a range of characteristics, including intellectual disability, distinctive facial features and skeletal abnormalities. (curvesandchaos.com)
  • Fraser syndrome is characterized by multiple physical abnormalities. (curvesandchaos.com)
  • A minority of affected individuals have structural cardiac abnormalities, true gastrointestinal malformations, and anomalies of the genitourinary tract. (nih.gov)
  • Goldenhar Syndrome is a rare, generally sporadic condition, whose physical manifestations include asymmetric incomplete facial development, epibulbar dermoids, auricular malformations e auricular appendices, vertebral anomalies, central nervous system disturbances, ocular irregularities and visceral abnormalities. (bvsalud.org)
Disorders8
  • Neurocutaneous syndromes represent a group of central nervous system disorders with concurrent lesions in the skin, eye, and possibly other visceral organs. (medscape.com)
  • Neonatal Seizure Disorders Neonatal seizures are abnormal electrical discharges in the central nervous system of neonates and usually manifest as stereotyped muscular activity or autonomic changes. (msdmanuals.com)
  • Nonepileptic seizures are provoked by a temporary disorder or stressor (eg, metabolic disorders, central nervous system (CNS) infections, cardiovascular disorders, drug toxicity or withdrawal, psychogenic disorders). (msdmanuals.com)
  • Conclusion: The present study gives an indication of an association between selected disorders of the central nervous system and parental exposure to 50 Hz magnetic fields. (bmj.com)
  • His work in that section has focused on understanding two rare genetic disorders involving cholesterol, Smith-Lemli-Opitz syndrome and Niemann-Pick disease type C. Smith-Lemli-Opitz syndrome results from a defect in the ability to manufacture cholesterol. (nih.gov)
  • Genetic disorders that affect the central nervous system, such as fragile X syndrome, can also cause seizures. (medicalnewstoday.com)
  • Pediatric neurology is a branch of medicine concerned with treating disorders of the nervous system in children and includes all conditions involving the brain, spinal cord, muscle and nerves. (ualberta.ca)
  • Important new studies and progress in research on bowel motility and motility disorders are covered in detail as well as new aspects concerning the embryology, functional anatomy of the enteric nervous system. (chipsbooks.com)
Anomalies6
  • The posterior fossa anomalies analyzed were Dandy-Walker malformation (DWM), mega cisterna magna (MCM), Blake's pouch cyst (BPC) and vermian hypoplasia (VH). (nih.gov)
  • 49.4%) had single system anomalies. (who.int)
  • Isolated systems anomalies included central nervous system (12 cases), cardiovascular system (9 cases), skeletal system (7 cases) and gastrointestinal system (6 cases). (who.int)
  • 1000 naissances) : 49 (50,6 %) des bébés avaient des malformations multiples, tandis que 48 (49,4 %) avaient des anomalies touchant un seul système. (who.int)
  • Dandy-Walker malformation, variant, and mega cisterna magna are currently believed to represent a continuum of developmental anomalies on a spectrum that has been termed the Dandy-Walker complex. (medscape.com)
  • RÉSUMÉ Afin d'estimer l'incidence des cas de fente labiale et de fente palatine chez les nourrissons jordaniens et de repérer les anomalies associées, nous avons mené une étude prospective en milieu hospitalier sur une période de cinq ans, de janvier 2000 à janvier 2005. (who.int)
Mega cisterna magna2
  • Classically, posterior fossa cystic malformations have been divided into Dandy-Walker malformation, Dandy-Walker variant, mega cisterna magna, and posterior fossa arachnoid cyst. (medscape.com)
  • This sagittal T1-weighted MRI shows a large retrocerebellar cerebrospinal fluid collection and a normal fourth ventricle and vermis in a patient with mega cisterna magna in Dandy-Walker malformation. (medscape.com)
Megacystis Microcolon Intestinal Hypoperistalsis Syndrome1
  • On August 20, 2018, we added five conditions -Fibrolamellar Cancer, Megacystis Microcolon Intestinal Hypoperistalsis Syndrome (MMIHS), Megalencephaly Capillary Malformation Syndrome (MCAP), Superficial Siderosis of the Central Nervous System, and Tetrasomy 18p-to this essential list. (ssa.gov)
Vascular2
Congenital malformation1
  • Dandy-Walker malformation is a rare congenital malformation that involves the cerebellum and fourth ventricle. (medscape.com)
Central11
Seizures1
  • A much more common diagnosis (the most common diagnosis in infants with intractable seizures, including infantile spasm seizures [ISS]) is that of "cortical dysplasia," a malformation of cortical development (MCD) which, in its extreme form, shows features almost identical to those of a tuber of tuberous sclerosis complex. (medscape.com)
Dandy-Walker7
  • Dandy-Walker malformation is characterized by agenesis or hypoplasia of the cerebellar vermis, cystic dilatation of the fourth ventricle, and enlargement of the posterior fossa. (medscape.com)
  • A large number of concomitant problems may be present, but Dandy-Walker malformation is recognized whenever these 3 features are found. (medscape.com)
  • Dandy-Walker malformation may be associated with atresia of the foramen of Magendie and, possibly, the foramen of Luschka. (medscape.com)
  • See the Dandy-Walker malformation images provided below. (medscape.com)
  • Dandy-Walker malformation was first described by Dandy and Blackfan in 1914. (medscape.com)
  • Not until 1954 did Benda first emphasize that atresia of the cerebellar outlet foramina is not an essential feature of the condition and suggested the now widely accepted term Dandy-Walker malformation. (medscape.com)
  • Since the vermis is present in posterior fossa arachnoid cyst, this is considered separately from Dandy-Walker malformation. (medscape.com)
Sporadic2
  • sometimes described as Sturge-Weber-Dimitri syndrome or by the more descriptive name encephalotrigeminal angiomatosis) is a sporadic neurocutaneous syndrome, with no known genetic cause. (medscape.com)
  • Hereditary and sporadic conditions which are characterized by progressive nervous system dysfunction. (edu.au)
Hypoplasia2
  • Affected individuals have complex and striking malformations of the limbs, face, and nervous and bone systems, only partially described by the already-long disease name "brachyphalangy-polydactyly-tibial aplasia/hypoplasia syndrome" (BPTAS). (mpg.de)
  • The distinctive facial features of Apert syndrome are acrocephaly (or oxycephaly) with bicoronal synostosis, maxillary hypoplasia, and high-arched palate ( Figure 1 ). (contemporarypediatrics.com)
Autosomal recessive5
  • Meckel-Gruber syndrome (MKS) is a lethal, rare, autosomal recessive condition characterized by the triad of occipital encephalocele, large polycystic kidneys, and postaxial polydactyly. (medscape.com)
  • Of the 49 babies with multiple malformations, 21 (42.8%) had recog- nized syndromes, most of which were autosomal recessive and 17 had chromosomal aberrations. (who.int)
  • Fraser syndrome is caused by mutations in three different genes : FRAS1, GRIP1, and FREM2 and is inherited in an autosomal recessive manner. (curvesandchaos.com)
  • Fraser syndrome is an autosomal recessive genetic disorder. (curvesandchaos.com)
  • Fraser syndrome is a rare, autosomal recessive disorder characterized by cryptophthalmos, syndactyly, and renal agenesis or obstructive uropathy.100 The cryptophthalmos is present in 85% and is bilateral in 70% of these cases. (curvesandchaos.com)
Genetics2
  • Pfeiffer type 2 syndrome: review with updates on its genetics and molecular biology. (nih.gov)
  • METHODS: This review will specifically examine the most severe type , Pfeiffer syndrome type 2, focusing on its genetics and molecular biology. (nih.gov)
Syndactyly2
  • Syndactyly of all 4 extremities is characteristic of Apert syndrome ( Figure 2 ). (contemporarypediatrics.com)
  • Apert syndrome is characterized by the presence of multisuture craniosynostosis, midface retrusion, and syndactyly of the hands with fusion of the second through fourth nails. (nih.gov)
Cardiac2
  • Patients present with distinctive physical features and a wide range of malformations (e.g. cardiac, renal). (orpha.net)
  • Cardiac repair or neurosurgical intervention for encephalocele may be warranted in patients with Meckel-Gruber syndrome. (medscape.com)
Severe2
  • The sequencing data showed that in the affected individuals with the severe malformations, the reading frame for the final third of the HMGB1 gene is shifted. (mpg.de)
  • Exposure to Zika virus during fetal development increases the risk of severe health outcomes, such as congenital Zika syndrome. (canada.ca)
Epilepsy3
  • According to 2017 research , there are 84 genes that researchers consider to be epilepsy genes, as they cause either epilepsy or syndromes that feature epilepsy as the main symptom. (medicalnewstoday.com)
  • In addition to these genes, there are 73 genes that link to malformations in brain development and epilepsy. (medicalnewstoday.com)
  • Advances include epilepsy surgery in infants, the use of implanted depth electrodes for surgical mapping, intra-operative computer guidance systems, the use of 3D electrical dipole models and the use of new neuro-imaging systems for brain mapping and for identification of the epileptic zone. (ualberta.ca)
Genetic4
  • Congenital hemidysplasia with ichthyosiform erythroderma and limb defects (also known as "CHILD syndrome") is a genetic disorder with onset at birth seen almost exclusively in females. (wikipedia.org)
  • [ 12 ] This mapping suggests genetic heterogeneity in Meckel-Gruber syndrome. (medscape.com)
  • 7 About 10% to 20% of cases of craniosynostosis are linkedto a genetic syndrome. (contemporarypediatrics.com)
  • Hurler Syndrome - Hurler Syndrome research papers examine the rare genetic disorder that prohibits a person from making a specific substance, lysosomal alpha-L-iduronidase. (papermasters.com)
Pfeiffer2
Apert2
Mutations2
  • 5 The syndrome is typically caused by 2 point mutations (S252W and P253R) and 2 Alu insertions in the fibroblast growth factor receptor 2 gene (FGFR2) located on chromosome 10q26. (contemporarypediatrics.com)
  • CEDNIK syndrome results from loss-of-function mutations in SNAP29. (genome.jp)
Sturge-Weber Sy1
  • They include tuberous sclerosis complex, Sturge-Weber syndrome , von Hippel-Lindau disease, and neurofibromatosis. (medscape.com)
Manifestations1
  • The first case of CHILD syndrome with ocular manifestations in a patient with progressive bilateral optic nerve atrophy was recently reported in 2010 by Knape et al. (wikipedia.org)
Abnormal1
  • A seizure is an intermittent abnormality of nervous system physiology characterised by a transient occurrence of signs and/or symptoms due to abnormal excessive or synchronous neuronal activity in the brain. (nih.gov)
Characteristic1
Intellectual Disability1
  • Individuals with the condition may have intellectual disability, smaller than normal head size, and certain physical malformations. (nih.gov)
Goldenhar Syndrome3
  • Goldenhar Syndrome - Goldenhar Syndrome research papers discuss the rare congenital defect typified by the incomplete development of the ear, nose, soft palate, lip, and mandible. (papermasters.com)
  • The purpose of this case report was to describe clinical presentation of Goldenhar syndrome in a five-year old male with no significant family history, where almost all of the classic signs of the condition were present. (bvsalud.org)
  • Goldenhar syndrome. (bvsalud.org)
Patients4
  • G.B. Gruber also published reports of patients with Meckel-Gruber syndrome in 1934 and gave it the name dysencephalia splanchnocystica. (medscape.com)
  • Patients with BPTA syndrome have characteristically malformed limbs featuring short fingers and additional toes, missing tibia bones in their legs and reduced brain size. (mpg.de)
  • Currently, I am enrolling patients who have Gaucher disease, Hunter syndrome, Fabry disease, and Pompe disease in registries. (nyulangone.org)
  • NF2 is a multiple neoplasia syndrome that predisposes patients to the development of tumors in the nervous system, eyes and skin. (reviewofoptometry.com)
Cancer2
Epidermal1
Clinically1
  • 3% of all children born in any hospital, malformations were clinically evaluated, di- country or year will have a significant con- agnosed and statistically registered. (who.int)
Rare2
  • 8 oz[citation needed] CHILD syndrome is a rare disorder with only 60 recorded cases worldwide thus far in literature. (wikipedia.org)
  • CHRRPE are rare intraocular tumors characterized by the malformation of the neurosensory retina, retinal pigment epithelium and adjacent vitreous. (reviewofoptometry.com)