• Neurocutaneous syndromes represent a group of central nervous system disorders with concurrent lesions in the skin, eye, and possibly other visceral organs. (medscape.com)
  • The congenital hepatorenal fibrocystic syndromes are a group of severe, mostly autosomal recessive, monogenic disorders that are characterised by a common pathological appearance, with the presentation of multiple defects in the liver and kidney as the most predominant feature. (bmj.com)
  • Specific areas of research this FOA seeks to encourage include study of the mechanisms controlling angiogenic responses to physiological and pathological stimuli, the development and patterning of nervous system vasculature, and the etiology of disorders affecting development and/or ongoing angiogenesis in nervous system vasculature. (nih.gov)
  • These cases maybe be caused by brain injuries that occur before or during birth, problems with blood flow in the developing brain, brain infections, or other disorders affecting the nervous system. (nih.gov)
  • In humans, those collective birth defects are called Fetal Alcohol Spectrum Disorders, with the most severe manifestation being Fetal Alcohol Syndrome (FAS). (asu.edu)
  • Effective treatments for central nervous system (CNS) injuries, diseases, and disorders remain a serious challenge for preclinical research scientists and clinicians This newsletter discusses some compounds that are in clinical trials or proteins/pathways that warrant consideration as therapeutic targets (Fig. 1). (cytoskeleton.com)
  • BA-1049 is being evaluated as a treatment for glaucoma and cerebral vascular disorders (e.g., cerebral cavernous malformations) 3 . (cytoskeleton.com)
  • MED12-related disorders include the phenotypes of FG syndrome type 1 (FGS1), Lujan syndrome (LS), X-linked Ohdo syndrome (XLOS), Hardikar syndrome (HS), and nonspecific intellectual disability (NSID). (beds.ac.uk)
  • Rasopathies include some rare related syndromes (Costello, LEOPARD and Cardio-Fazio-Cutaneous [CFC] syndrome), the more common Noonan syndrome as well as neurofibromatosis type 1 (NF1) and similar disorders (Legius, NF1-Noonan syndrome). (amedes-genetics.de)
  • Although double-blind randomized, placebo-controlled studies are currently lacking, early research suggests that cannabis is effective in the treatment of severe pediatric epilepsy disorders like Lennox-Gastaut syndrome. (qualifyingconditions.com)
  • A total of 19 two-dimensional (2D) images of patients affected by several molecularly confirmed craniofacial syndromes (14 monogenic disorders and 5 chromosome diseases) and evaluated at the main involved Institution were analyzed using the Face2Gene CLINIC application (vs.19.1.3). (biomedcentral.com)
  • Commonly, HRFC syndromes present in the neonatal and paediatric age, with consistent developmental abnormalities mostly involving the liver and kidney. (bmj.com)
  • Extrahepatic manifestations include mostly bone and central nervous system abnormalities, dysmorphic features, and developmental delay. (bmj.com)
  • The condition can also arise from brain malformations such as forms of cortical dysplasia, which are abnormalities in the outer surface of the brain (cerebral cortex). (nih.gov)
  • It is not clear why these neurological abnormalities evolve into Lennox-Gastaut syndrome. (nih.gov)
  • Maffucci syndrome - bony abnormalities resulting from chondroplasia and defective ossification. (logicalimages.com)
  • Fetal alcohol syndrome (FAS) is the most severe combination of these defects under this heading, and is characterized by pre- and postnatal growth deficiencies, facial abnormalities, and defects of the central nervous system (CNS). (asu.edu)
  • Fetal Alcohol Syndrome (FAS) is part of this group and was first defined in 1973 as a condition characterized by pre- and postnatal growth deficiencies, facial abnormalities and defects of the central nervous system (CNS). (asu.edu)
  • FAS is defined by pre- and post-natal growth retardation, minor facial abnormalities, and deficiencies in the central nervous system (CNS). (asu.edu)
  • Prenatal alcohol (ethanol) exposure can have dramatic effects on the development of the central nervous system (CNS), including morphological abnormalities and an overall reduction in white matter of the brain. (asu.edu)
  • Epidermal nevus syndrome is an unusual neurocutaneous disorder in which epidermal nevi are associated with abnormalities of the skeleton and central nervous system , including the eyes and somtimes the cardiovascular system . (lookfordiagnosis.com)
  • Scimitar vein anomaly with multiple cardiac malformations, craniofacial, and central nervous system abnormalities in a brother and sister: familial scimitar anomaly or new syndrome? (lookfordiagnosis.com)
  • Magnetic resonance imaging (MRI) of the head and an echocardiography may reveal cerebral malformations and cardiovascular abnormalities respectively. (orpha.net)
  • 2) CNS malformation, and (3) hepatic abnormalities, including portal fibrosis or ductal proliferation. (nih.gov)
  • 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)
  • The current surveillance system (routine statistical reporting) collects data on the total number of congenital anomalies of the nervous system (including anencephaly and similar malformations, hydrocephalus), heart and vascular system, cleft palate and lip, Down syndrome and other congenital anomalies. (unicef.org)
  • 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)
  • Congenital anomalies can include malformations of the cardiac, gastrointestinal, genitourinary, and/or central nervous systems. (nih.gov)
  • The association of the above craniofacial anomalies has been occasionally mentioned in syndromes with anomalous venous return. (lookfordiagnosis.com)
  • To the best of our knowledge , even though five familial cases of scimitar "syndrome" have been described thus far, the constellation of anomalies shown by these two sibs has not been reported previously. (lookfordiagnosis.com)
  • This family may represent its own novel syndrome of multiple congenital anomalies of which scimitar vein is a component. (lookfordiagnosis.com)
  • Minor cerebral malformations, cardiovascular or renal anomalies and intellectual deficit have also been described. (orpha.net)
  • GLI3-related Pallister-Hall syndrome (GLI3-PHS) is characterized by a spectrum of anomalies ranging from polydactyly, asymptomatic bifid epiglottis, and hypothalamic hamartoma at the mild end to laryngotracheal cleft with neonatal lethality at the severe end. (nih.gov)
  • Risks to the baby include macrosomia (high birth weight), congenital cardiac and central nervous system anomalies, and skeletal muscle malformations. (bionapcfa.com)
  • They can be characterized by variable congenital defects (heart, genitourinary, central nervous system, and skeletal malformations) and craniofacial anomalies, which can appear distinctive, directing clinical diagnosis, or sometimes subtle or non-specific. (biomedcentral.com)
  • 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)
  • Features of the syndrome include weakness and stiffness in the muscles of the lower and upper limbs, intellectual disability and seizures, and brain malformations. (nih.gov)
  • 17. New X-linked mental retardation disorder with Dandy-Walker malformation, basal ganglia disease, and seizures. (nih.gov)
  • Lennox-Gastaut syndrome is a severe condition characterized by repeated seizures (epilepsy) that begin early in life. (nih.gov)
  • Other types of seizures have been reported less frequently in people with Lennox-Gastaut syndrome. (nih.gov)
  • Seizures associated with Lennox-Gastaut syndrome often do not respond well to therapy with anti-epileptic medications. (nih.gov)
  • Although each seizure episode associated with Lennox-Gastaut syndrome is usually brief, more than two-thirds of affected individuals experience prolonged periods of seizure activity (known as status epilepticus) or episodes of many seizures that occur in a cluster. (nih.gov)
  • About one-third of people with Lennox-Gastaut syndrome have normal intellectual development before seizures begin. (nih.gov)
  • As a result of their seizures and intellectual disability, most people with Lennox-Gastaut syndrome require help with daily activities. (nih.gov)
  • The type of seizures caused by Lennox-Gastaut syndrome can include tonic (body stiffens, eyes deviate upward, pupils dilate, respiratory patterns become altered), atonic (brief loss of consciousness and muscle tone, abrupt falling), atypical absence (spell of staring), and myoclonic (sudden muscle jerks). (qualifyingconditions.com)
  • The Epilepsy Foundation, however, notes that tonic and atonic seizures are most common in Lennox-Gastaut syndrome. (qualifyingconditions.com)
  • The capability of CBD to reduce or eliminate seizures is due to its effects on the body's endocannabinoid system (Wallace, et al. (qualifyingconditions.com)
  • One case report analyzing a young girl with Dravet syndrome, another severe childhood epilepsy disorder, found that medical marijuana brought the child's seizure frequency from nearly 50 convulsive seizures per day to 2-3 nocturnal convulsions per month. (qualifyingconditions.com)
  • Blue rubber bleb nevus syndrome (BRBNS) is characterized by venous malformations of the skin and gastrointestinal (GI) tract. (logicalimages.com)
  • GI venous malformations predominantly occur in the small intestines but can occur anywhere from the mouth to the anus. (logicalimages.com)
  • lymphedema could be the result of a primary anomaly of the lymphatic system or be induced by high pressure in the venous system or by compression of the lymphatic circulation by the hypertrophic azygous vessels in the posterior mediastinum . (lookfordiagnosis.com)
  • The scimitar vein "syndrome" is an anomaly of lobar aplasia or hypoplasia and total or partial anomalous venous drainage of one lung . (lookfordiagnosis.com)
  • The syndrome involves multiple cutaneous and visceral venous malformations. (bmj.com)
  • The use of radiation treatment, either as a primary treatment modality or as an adjunct therapy, is in creasing for patients afflicted with central nervous system lesions. (medscape.com)
  • In this paper, we review the literature regarding radiation-induced cavernomas of the central nervous system. (medscape.com)
  • This disease involves multiple organ systems throughout the body, especially the heart, lungs, skin, and kidneys in addition to the central nervous system (CNS). (medscape.com)
  • By demonstrating that AP-4 assembly is not spontaneous but rather depends on AAGAB, the findings advance understanding of an adaptor protein complex that is critically involved in development of the central nervous system. (nih.gov)
  • The Fetal Alcohol Syndrome (FAS) is characterized by growth deficiency, particular facial features, and central nervous system (CNS) dysfunctions (mental retardation, microencephaly and brain malformations). (nih.gov)
  • Rarely, lesions of the central nervous system can be fatal. (logicalimages.com)
  • In recent years, a relatively large body of evidence has accumulated showing the beneficial effects of intravenous ketamine infusion in patients with chronic refractory pain states, including fibromyalgia, neuropathic pain, phantom limb pain, postherpetic neuralgia, complex regional pain syndromes (CRPS), diabetic neuropathy, sickle cell pain during acute crises, and central pain related to stroke or spinal cord injuries. (asra.com)
  • Infusions are dosed based on ideal body weight and started at 1 mcg/kg/min and titrated to effect or best tolerated dose without significant cardiovascular or central nervous system side effects up to a maximum dose of 5 mcg/kg/min for a course of 1-5 days. (asra.com)
  • Excess intake of vitamin A and retinoids by pregnant women often results malformations to fetuses' skulls, faces, limbs, eyes, central nervous system. (asu.edu)
  • The basal ganglia, one of the central nervous system components, are affected by exposure to ethanol during development. (asu.edu)
  • Tetrahydrocannabinol (THC) can enhance the effects of drugs that cause sedation and depress the central nervous system, such as benzodiazepines, barbiturates, and alcohol. (cannakeys.com)
  • Child Neurology encompasses all congenital and aquired diseases of the central (brain, cerebellum, brain stem, basal ganglia, spine) and peripheral nervous system. (kinderneurologie.ch)
  • The underlying pathological mechanism of MWS has not yet been clearly established, but it is assumed that it is a developmental disorder of the central nervous system. (orpha.net)
  • There are only 200 cases of BRBNS in the literature, and central nervous system involvement is rarer still. (bmj.com)
  • In our study, the toxic effects of cigarette smoke exposure on central nervous system and the protective role of Omega 3 and Vitamin D against these toxic effects were investigated at biochemical and histological level. (heraldopenaccess.us)
  • We have detected that cigarette smoke caused significant histologic damage in central nervous system tissue of the fetus, and led to oxidative stress, increasing MDA and FOU levels in the tissue. (heraldopenaccess.us)
  • Cigarette smoke affects the physiological, biochemical, and behavioral functions of central nervous system (CNS). (heraldopenaccess.us)
  • They enter into cell membrane and are present in central nervous system and human brain at high concentrations. (heraldopenaccess.us)
  • The additions included Megacystis Microcolon Intestinal Hypoperistalsis Syndrome (MMIHS), Fibrolamellar Cancer, Superficial Siderosis of the Central Nervous System, Tetrasomy 18p, and Megalencephaly-Capillary Malformation Syndrome (MCAP). (maxeylaw.com)
  • Pancurak JGoldberg MFFrenkel MCrowell RM Cavernous hemangioma of the retina: genetic and central nervous system involvement. (jamanetwork.com)
  • While the cause of Lennox-Gastaut syndrome can't always be determined, it many cases, it be attributed to either brain malformations, perinatal asphyxia, severe head injury, central nervous system infection and inherited degenerative or metabolic conditions. (qualifyingconditions.com)
  • It has been suggested previously that hepatic and renal malformations in ARPKD, JATD, and EvC result from defects in developmental pathways shared by many organ systems. (bmj.com)
  • The nervous system in patients with cerebro-hepato-renal syndrome appeared to be affected at various tissue levels. (nih.gov)
  • renal artery stenosis associated with epidermal nevus syndrome. (lookfordiagnosis.com)
  • 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)
  • Fragile X syndrome is a genetic disorder characterized by a series of physical, mental and emotional symptoms that include a number social deficits such as a reduced ability to process information and learn. (cannakeys.com)
  • Congenital malformations in the MKG area often appear sporadically - is there a genetic (co-)cause? (amedes-genetics.de)
  • Aicardi syndrome is a disorder that occurs almost exclusively in females. (nih.gov)
  • Aicardi syndrome is a rare disorder. (nih.gov)
  • 8 oz[citation needed] CHILD syndrome is a rare disorder with only 60 recorded cases worldwide thus far in literature. (wikipedia.org)
  • citation needed] Because CHILD syndrome is a congenital disorder, the symptoms may be present at birth or may develop during the first few weeks of life and continue for the lifetime of the patient. (wikipedia.org)
  • These new guidelines will be a valuable resource for clinicians to accurately diagnose infants and children who were affected by alcohol exposure before birth," said NIAAA Director George F. Koob, PhD. "They represent the most data-driven diagnostic criteria for fetal alcohol syndrome and fetal alcohol spectrum disorder produced to date. (nih.gov)
  • That extra copy of chromosome 21 results in a congenital disorder called Down syndrome, which is characterized by a cluster of specific traits including intellectual disabilities, atypical facial appearance, and a high risk of heart disease. (asu.edu)
  • Meckel syndrome, also known as Meckel-Gruber syndrome, is a severe pleiotropic autosomal recessive developmental disorder caused by dysfunction of primary cilia during early embryogenesis. (nih.gov)
  • 2000). The clinical features of the Ellis-van Creveld syndrome appear to be identical regardless of whether the disorder is caused by mutation in the EVC gene (604831) or in the EVC2 gene (607261) (Ruiz-Perez et al. (nih.gov)
  • We excluded arteriovenous malformation and dural fistulae with cerebral angiography. (bmj.com)
  • HPE is associated with mental retardation and craniofacial malformations. (nih.gov)
  • A gene responsible for cavernous malformations of the brain maps to chromosome 7q. (jamanetwork.com)
  • The malformations include distinctive facial features, cleft palate, cardiac defects, underdeveloped external genitalia in males, postaxial polydactyly, and 2-3 syndactyly of the toes. (nih.gov)
  • The most common causes of early death in people with the syndrome are cardiovascular malformations. (wikipedia.org)
  • Several cardiovascular manifestations have been reported as a complication of epidermal nevus syndrome. (lookfordiagnosis.com)
  • He was a product of first degree consaguineous marriage who had intrauterine growth retardation and presented at 14 days of age with hypocalcemic tetany with normal cardiovascular system and immune function. (lookfordiagnosis.com)
  • The cardiovascular system in the family members was fully investigated and all results were completely normal. (lookfordiagnosis.com)
  • Today it has been included in treatment guidelines for many diseases mainly to help in cardiovascular diseases, in attention deficiency-hyperactivity syndrome, and in enhancing immune system [8,9]. (heraldopenaccess.us)
  • Most brain malformations begin long before a baby is born. (nih.gov)
  • There are head malformations that do not involve the brain. (medlineplus.gov)
  • These genes are involved in the function of nerve cells in the brain, but it is unclear how changes in them contribute to the development of Lennox-Gastaut syndrome. (nih.gov)
  • Classic Joubert syndrome (JS) is characterized by three primary findings: A distinctive cerebellar and brain stem malformation called the molar tooth sign (MTS). (beds.ac.uk)
  • It appears that scimitar vein "syndrome" is not a "syndrome" per se: it is most likely an anomaly of heterogeneous etiology. (lookfordiagnosis.com)
  • Smith-Lemli-Opitz syndrome (SLOS) is a congenital multiple-anomaly / cognitive impairment syndrome caused by an abnormality in cholesterol metabolism resulting from deficiency of the enzyme 7-dehydrocholesterol (7-DHC) reductase. (nih.gov)
  • In this study, we used the novel DeepGestalt technology powered by Face2Gene (FDNA Inc., MA, USA) in suggesting a correct diagnosis based on the facial gestalt of well-known multiple anomaly syndromes. (biomedcentral.com)
  • Multiple anomaly syndromes can be frequently diagnosed in a clinical setting. (biomedcentral.com)
  • Clinical portraits of 19 pediatric patients with a multiple anomaly syndrome evaluated at the main involved Institution (Medical Genetics, San Camillo-Forlanini Hospital of Rome, SCFH) by the first author (GP), were undertaken in Face2Gene from 2019 to 2020. (biomedcentral.com)
  • A comparison of fetal alcohol syndrome, toluene embryopathy and maternal phenylketonuria. (nih.gov)
  • In this review, we examine the clinical features and differential diagnoses of this group of syndromes, including autosomal recessive polycystic kidney disease (ARPKD), juvenile nephronophthisis (NPHP), Meckel-Gruber syndrome (MKS), Bardet-Biedl syndrome (BBS), and Jeune asphyxiating thoracic dystrophy (JATD). (bmj.com)
  • Hennekam syndrome is caused by changes in the CCBE1 or FAT4 genes and is inherited in an autosomal recessive manner. (nih.gov)
  • 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)
  • Ellis-van Creveld syndrome is an autosomal recessive skeletal dysplasia characterized by short limbs, short ribs, postaxial polydactyly, and dysplastic nails and teeth. (nih.gov)
  • The definition can be expanded to include other entities such as ataxia telangiectasia , incontinentia pigmenti, nevoid basal cell carcinoma syndrome (Gorlin syndrome), among others. (medscape.com)
  • Conditions commonly treated with intravenous ketamine infusions include neuropathic pain, CRPS, refractory headache or back pain in patients with Chiari malformations, refractory abdominal pain from inflammatory bowel disease or celiac artery compression syndrome, and pain related to vaso-occlusive sickle cell crisis. (asra.com)
  • 3. Chromosomal instability syndrome of total premature chromatid separation with mosaic variegated aneuploidy is defective in mitotic-spindle checkpoint. (nih.gov)
  • There is a higher incidence of major · congenital malformations among Arabs of Chromosomal aberrations the Gulf region [ 12,13 ]. (who.int)
  • Following a clinical genetics assessment, we diagnosed blue rubber bleb naevus syndrome (BRBNS) and gave amitriptyline for her pain. (bmj.com)
  • Previously, it has been suggested that ARPKD, JATD, and Ellis-van Creveld syndrome (EvC) may arise from defects in differentiation in a common developmental pathway. (bmj.com)
  • Kuwait (and many other countries) is to re- tion(s) as having either isolated abnormali- duce the morbidity attributable to birth de- ties affecting a single body system or multi- fects and developmental disabilities. (who.int)
  • Coffin-Siris syndrome (CSS) is classically characterized by aplasia or hypoplasia of the distal phalanx or nail of the fifth and additional digits, developmental or cognitive delay of varying degree, distinctive facial features, hypotonia, hirsutism/hypertrichosis, and sparse scalp hair. (nih.gov)
  • Cystic lesions also affect the kidneys and their severity determines the clinical presentation and long term prognosis for many HRFC syndromes. (bmj.com)
  • Both lesions demonstrate the mixed-signal intensities characteristic of a cavernous malformation. (jamanetwork.com)
  • Most definitions of Dandy-Walker malformation have included dysgenesis of the vermis, cystic dilatation of the fourth ventricle, and enlargement of the posterior fossa with elevation of the tentorium/torcula. (medscape.com)
  • Neural Tube Defects (NTD) Register allows to get on-time quality data on congenital malformation, analysis of causes and risks factors, assessment of efficiency of measures on NTD prevention, policy-makers informing, and evidence-based policy programming. (unicef.org)
  • Even more extensive and complex facial malformations include the differential diagnosis of frontonasal dysplasia, facial clefts of different Tessier types and the Opitz G/BBB syndromes (with different inheritance modes), which are associated with laryngo-tracheo-esophageal defects and hypospadias in addition to variably pronounced facial cleft or hypertelorism. (amedes-genetics.de)
  • They include tuberous sclerosis complex, Sturge-Weber syndrome , von Hippel-Lindau disease, and neurofibromatosis. (medscape.com)
  • The hepatorenal fibrocystic (HRFC) syndromes are a heterogeneous group of severe monogenic conditions that may be detected before birth. (bmj.com)
  • 16. Pathogenic correlation between mosaic variegated aneuploidy 1 (MVA1) and a novel BUB1B variant: a reappraisal of a severe syndrome. (nih.gov)
  • Severe lower limbs lymphedema of late onset revealing polysplenia syndrome--a case report. (lookfordiagnosis.com)
  • It is characterized by prenatal and postnatal growth restriction, microcephaly, moderate-to-severe intellectual disability, and multiple major and minor malformations. (nih.gov)
  • Lennox-Gastaut syndrome is a severe form of epilepsy that typically develops before the age of four. (qualifyingconditions.com)
  • Most cases of Lennox-Gastaut syndrome develop from an existing neurological abnormality. (nih.gov)
  • Otto Sachs was accredited for first describing the clinical characteristics of the syndrome in an 8-year-old girl. (wikipedia.org)
  • Lower limb lymphedema could represent a new clinical manifestation associated with polysplenia syndrome. (lookfordiagnosis.com)
  • We experimented with this technology on a selected cohort of pediatric patients with different syndromes and a molecular diagnosis, representing the first study from a single Italian clinical center. (biomedcentral.com)
  • 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)
  • 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)
  • Tobacco (cigarettes) is a substance, commonly used today and adversely affecting all systems in the organism due to many toxic agents contained. (heraldopenaccess.us)
  • In Type-1 diabetes, the body does not produce insulin, most commonly the result of the body's immune system destroying the insulin-producing cells in the pancreas called beta cells. (bionapcfa.com)