There are over 95 recognised primary immunodeficiency syndromes; they are generally grouped by the part of the immune system that is malfunctioning, such as lymphocytes or granulocytes . [10] The treatment of primary immunodeficiencies depends on the nature of the defect, and may involve antibody infusions, long-term antibiotics and (in some cases) stem cell transplantation . ... Immunodeficiency is also the hallmark of acquired immunodeficiency syndrome (AIDS), [9] caused by the human immunodeficiency virus (HIV). ... Unsourced material may be challenged and removed. ( November 2016 ) ( Learn how and when to remove this template message ) There are a large number of immunodeficiency syndromes that present clinical and laboratory characteristics of autoimmunity. ... Hypomorphic RAG mutations are seen in patients with midline granulomatous disease ; an autoimmune disorder that is commonly seen in patients with granulomatosis with polyangiitis and NK/T cell lymphomas. Wiskott–Aldrich syndrome (WAS) patients also present with eczema, autoimmune manifestations, recurrent bacterial infections and lymphoma. ... External links [ edit ] Classification D ICD - 10 : D84.9 ICD - 9-CM : 279.3 MeSH : D007153 DiseasesDB : 21506 SNOMED CT : 234532001 External resources Patient UK : Immunodeficiency Immune Deficiency Foundation The European Society of Immunodeficiencies v t e Lymphocytic adaptive immune system and complement Lymphoid Antigens Antigen Superantigen Allergen Antigenic variation Hapten Epitope Linear Conformational Mimotope Antigen presentation / professional APCs : Dendritic cell Macrophage B cell Immunogen Antibodies Antibody Monoclonal antibodies Polyclonal antibodies Autoantibody Microantibody Polyclonal B cell response Allotype Isotype Idiotype Immune complex Paratope Immunity vs. tolerance Action: Immunity Autoimmunity Alloimmunity Allergy Hypersensitivity Inflammation Cross-reactivity Inaction: Tolerance Central Peripheral Clonal anergy Clonal deletion Tolerance in pregnancy Immunodeficiency Immune privilege Immunogenetics Affinity maturation Somatic hypermutation Clonal selection V(D)J recombination Junctional diversity Immunoglobulin class switching MHC / HLA Lymphocytes Cellular T cell Humoral B cell NK cell Substances Cytokines Opsonin Cytolysin v t e Lymphoid and complement disorders causing immunodeficiency Primary Antibody / humoral ( B ) Hypogammaglobulinemia X-linked agammaglobulinemia Transient hypogammaglobulinemia of infancy Dysgammaglobulinemia IgA deficiency IgG deficiency IgM deficiency Hyper IgM syndrome ( 1 2 3 4 5 ) Wiskott–Aldrich syndrome Hyper-IgE syndrome Other Common variable immunodeficiency ICF syndrome T cell deficiency ( T ) thymic hypoplasia : hypoparathyroid ( Di George's syndrome ) euparathyroid ( Nezelof syndrome Ataxia–telangiectasia ) peripheral: Purine nucleoside phosphorylase deficiency Hyper IgM syndrome ( 1 ) Severe combined (B+T) x-linked: X-SCID autosomal: Adenosine deaminase deficiency Omenn syndrome ZAP70 deficiency Bare lymphocyte syndrome Acquired HIV/AIDS Leukopenia : Lymphocytopenia Idiopathic CD4+ lymphocytopenia Complement deficiency C1-inhibitor ( Angioedema / Hereditary angioedema ) Complement 2 deficiency / Complement 4 deficiency MBL deficiency Properdin deficiency Complement 3 deficiency Terminal complement pathway deficiency Paroxysmal nocturnal hemoglobinuria Complement receptor deficiency v t e Diseases of monocytes and granulocytes Monocytes and macrophages ↑ -cytosis : Monocytosis Histiocytosis Chronic granulomatous disease ↓ -penia : Monocytopenia Granulocytes ↑ -cytosis : granulocytosis Neutrophilia Eosinophilia / Hypereosinophilic syndrome Basophilia Bandemia ↓ -penia : Granulocytopenia/agranulocytosis ( Neutropenia / Severe congenital neutropenia / Cyclic neutropenia Eosinopenia Basopenia ) Disorder of phagocytosis Chemotaxis and degranulation Leukocyte adhesion deficiency LAD1 LAD2 Chédiak–Higashi syndrome Neutrophil-specific granule deficiency Respiratory burst Chronic granulomatous disease Neutrophil immunodeficiency syndrome Myeloperoxidase deficiency Biology portal Medicine portal
Description Restless legs syndrome (RLS) is a neurologic sleep/wake disorder characterized by uncomfortable and unpleasant sensations in the legs that appear at rest, usually at night, inducing an irresistible desire to move the legs. ... For additional information and a discussion of genetic heterogeneity of restless legs syndrome, see RLS1 (102300). Mapping In a genomewide association study of 393 patients with restless leg syndrome and 1,602 controls, Winkelmann et al. (2007) found a significant association between restless leg syndrome and rs2300478 in the MEIS1 gene (601739) on chromosome 2p14-p13. ... In a study of 244 patients with restless legs syndrome, including 123 familial probands, Vilarino-Guell et al. (2008) confirmed an association with 2 SNPs in the MEIS1 gene. ... The association was found only in familial and not sporadic cases. Restless legs syndrome can occur in end-stage renal disease (ESRD), with a prevalence ranging between 18.4 and 45.8% in ESRD patients of European descent (summary by Schormair et al., 2011).
If the bend persists, then as the tendons and ligaments tighten (as they do if not stretched [ medical citation needed ] ), the bend may become permanent. [3] Ill-fitting shoes are especially likely to push the toes out of balance. [1] Toe deformities can also be caused by muscle, nerve, or joint damage, resulting from conditions such as osteoarthritis , rheumatoid arthritis , stroke , Charcot–Marie–Tooth disease , complex regional pain syndrome or diabetes . [3] Hammer toe can also be found in Friedreich's ataxia (GAA trinucleotide repeat). ... PMID 22118228 . ^ Benefits and Risks of Hammertoe Surgery External links [ edit ] Hammer Toe – American Academy of Orthopedic Surgeons Hammer Toes – American Podiatric Medical Association Aetna Clinical Policy Bulletin: Hammertoe Repair Guidelines for surgical repair Classification D ICD - 10 : M20.4 , Q66.8 ICD - 9-CM : 735.4 , 755.66 MeSH : D037801 External resources MedlinePlus : 001235 v t e Acquired musculoskeletal deformities Upper limb shoulder Winged scapula Adhesive capsulitis Rotator cuff tear Subacromial bursitis elbow Cubitus valgus Cubitus varus hand deformity Wrist drop Boutonniere deformity Swan neck deformity Mallet finger Lower limb hip Protrusio acetabuli Coxa valga Coxa vara leg Unequal leg length patella Luxating patella Chondromalacia patellae Patella baja Patella alta foot deformity Bunion/hallux valgus Hallux varus Hallux rigidus Hammer toe Foot drop Flat feet Club foot knee Genu recurvatum Head Cauliflower ear General terms Valgus deformity / Varus deformity Joint stiffness Ligamentous laxity v t e Congenital malformations and deformations of musculoskeletal system / musculoskeletal abnormality Appendicular limb / dysmelia Arms clavicle / shoulder Cleidocranial dysostosis Sprengel's deformity Wallis–Zieff–Goldblatt syndrome hand deformity Madelung's deformity Clinodactyly Oligodactyly Polydactyly Leg hip Hip dislocation / Hip dysplasia Upington disease Coxa valga Coxa vara knee Genu valgum Genu varum Genu recurvatum Discoid meniscus Congenital patellar dislocation Congenital knee dislocation foot deformity varus Club foot Pigeon toe valgus Flat feet Pes cavus Rocker bottom foot Hammer toe Either / both fingers and toes Polydactyly / Syndactyly Webbed toes Arachnodactyly Cenani–Lenz syndactylism Ectrodactyly Brachydactyly Stub thumb reduction deficits / limb Acheiropodia Ectromelia Phocomelia Amelia Hemimelia multiple joints Arthrogryposis Larsen syndrome RAPADILINO syndrome Axial Skull and face Craniosynostosis Scaphocephaly Oxycephaly Trigonocephaly Craniofacial dysostosis Crouzon syndrome Hypertelorism Hallermann–Streiff syndrome Treacher Collins syndrome other Macrocephaly Platybasia Craniodiaphyseal dysplasia Dolichocephaly Greig cephalopolysyndactyly syndrome Plagiocephaly Saddle nose Vertebral column Spinal curvature Scoliosis Klippel–Feil syndrome Spondylolisthesis Spina bifida occulta Sacralization Thoracic skeleton ribs : Cervical Bifid sternum : Pectus excavatum Pectus carinatum
The cartilage is no longer smooth and therefore movement and use is very painful. [1] While it often affects young individuals engaged in active sports, it also afflicts older adults who overwork their knees. [2] [3] Chondromalacia patellae is sometimes used synonymously with patellofemoral pain syndrome . [4] However, there is general consensus that patellofemoral pain syndrome applies only to individuals without cartilage damage. [4] [5] Contents 1 Cause 2 Diagnosis 3 Treatment 4 See also 5 References 6 External links Cause [ edit ] The condition may result from acute injury to the patella or chronic friction between the patella and a groove in the femur through which it passes during knee flexion. [6] Possible causes include a tight iliotibial band , neuromas , bursitis , overuse, malalignment, core instability, and patellar maltracking. [ citation needed ] Pain at the front or inner side of the knee is common in adults of all ages especially when engaging in soccer, gymnastics, cycling, rowing, tennis, ballet, basketball, horseback riding, volleyball, running, combat sports, figure skating, snowboarding, skateboarding and even swimming. ... Treatment with surgery is declining in popularity due to positive non-surgical outcomes and the relative ineffectiveness of surgical intervention. [10] See also [ edit ] Knee Knee pain Patellofemoral pain syndrome Knee osteoarthritis Plica syndrome Iliotibial band syndrome References [ edit ] ^ "Chondromalicia patella" . ... "Pharmacotherapy for patellofemoral pain syndrome". The Cochrane Database of Systematic Reviews (3): CD003470. doi : 10.1002/14651858.CD003470.pub2 . ... "Management of patellofemoral pain syndrome" . American Family Physician . 75 (2): 194–202. ... About.com. ^ Jenkins, Mark A.; Caryn Honig (2005-06-02). "Patello-Femoral Syndrome" . Archived from the original on 2008-10-09 .
Clinical Features This disorder is characterized by well-localized pain when the patella is grated against the femoral condyles or when the knee is actively extended with the patella manually displaced distally. Rubacky (1963) described 5 families with multiple affected persons in multiple generations and male-to-male transmission. The association of patellar chondromalacia with recurrent dislocation of the patella (169000) is well known and the former is usually attributed to the latter. However, Rubacky (1963) suggested that the cause and effect relation may be the other way around in some cases. This condition is probably not a form of osteochondritis dissecans (165800), which can affect the patella.
Familial chondromalacia patellae is an extremely rare, inherited patellar dysostosis disorder characterized by chondromalacia of the patella associated with patellar pain and dislocation (distal displacement) upon knee extension. Male-to-male transmission is reported. There have been no further descriptions in the literature since 1963.
Please help by editing the article to make improvements to the overall structure. ( April 2017 ) ( Learn how and when to remove this template message ) Shone's syndrome Other names Shone's complex , Shone's anomaly , or Shone's disease Specialty Cardiology Shone's syndrome is a rare congenital heart disease described by Shone in 1963. In the complete form, four left-sided defects are present: [1] Supravalvular mitral membrane (SVMM) Parachute mitral valve Subaortic stenosis (membranous or muscular) Coarctation of the aorta Of these four defects, supravalvular mitral membrane (SVMM) is the first to occur, and triggers the development of the other three defects. [ citation needed ] Partial complexes, or forme fruste, have also been described. [1] The definition is often expanded to include lesions of the left side of the heart not originally ascribed to Shone's syndrome, including mitral and aortic valvular lesions and supravalvular aortic stenosis. [2] The term parachute mitral valve stems from the morphological appearance of the valve; that is to say, the mitral valve leaflets appear as the canopy of the parachute, the chordae as the strings and the papillary muscle as the harness. Contents 1 Presentation 2 Mechanism 3 Diagnosis 4 Treatment 5 References 6 External links Presentation [ edit ] As discussed earlier, Shone’s syndrome is a rare disorder that is often detected in very young children. ... The diagnosis of Shone’s complex requires an ultrasound of the heart (echocardiogram) and a cardiac catheterization procedure, that is, insertion of a device through blood vessels in the groin to the heart that helps identify heart anatomy. [ citation needed ] Treatment [ edit ] When treated early, that is, before the onset of pulmonary hypertension, a good outcome is possible in patients with Shone’s syndrome. However, other surgical methods can be employed depending upon the patient’s medical background. The single most important determinant of poor outcome during the surgical management of patients with Shone's syndrome is the degree of involvement of the mitral valve and the presence of secondary pulmonary hypertension. [3] References [ edit ] ^ a b c d e f Shone JD, Sellers RD, Anderson RC, Adams P, Lillehei CW, Edwards, JE (1963).
Shone complex is a rare congenital cardiac malformation characterized by a complex of four obstructive lesions of the left heart: supravalvular mitral membrane, parachute mitral valve, muscular or membranous subvalvular aortic stenosis and coarctation of aorta. Clinical manifestations include heart murmur, shortness of breath and increased load intolerance, left ventricular hypertrophy and dilatation of the left atrium. Partial forms, involving only two or three out of the four specific anomalies, are also described and occasionally other cardiovascular anomalies (e.g. bicuspid aortic valve, patent ductus arteriosus, ventricular septal defect) may be associated.
A rare retinal vasculopathy characterized by impaired venous return from the retinal circulation due to an occlusion occurring within or posterior to the optic nerve head. The clinical presentation is variable and may range from asymptomatic to an abrupt and profound loss of vision. Complications causing visual loss include macular edema, macular ischemia, optic neuropathy, vitreous hemorrhage, tractional retinal detachment, and in more severe cases extensive capillary non-perfusion with a high risk of neovascular glaucoma.
Clinical Features Kahn et al. (1976) divided the syndrome of insulin resistance and acanthosis nigricans into two: type A, a syndrome of younger females with signs of virilization and accelerated growth in whom a defect in cell receptors for insulin may be primary; and type B, a syndrome in older females with signs of an immunologic disease in whom circulating antibodies to the insulin receptor are found. Although no familial cases were found, they commented that all their patients and those in the literature were female; most were black, although the syndrome has been observed in persons of American Indian, Italian, Venezuelan, and Japanese origin. ... Seemanova et al. (1992) investigated a family in which at least 4 men in 3 generations had a syndrome of obesity, mild mental retardation, delayed puberty, macroorchidism, acanthosis nigricans, hyperinsulinemia, and, later, overt insulin-resistant diabetes mellitus (noninsulin-dependent diabetes mellitus, or type II diabetes). ... Among 22 unrelated women with insulin resistance, acanthosis nigricans, and the polycystic ovary syndrome (hyperandrogenemia, oligoamenorrhea, and hirsutism), Moller et al. (1994) identified only 1 mutation in the INSR gene: arg1174 to gln (147670.0030). Moller et al. (1994) concluded that mutation in the INSR gene is a rare cause of the type A syndrome of extreme insulin resistance.
Some of the more common medical conditions that are closely associated with Moyamoya disease include trisomy 21 ( Down Syndrome ), sickle cell disease, and neurofibromatosis type 1. There is also evidence that identifies hyperthyroidism and congenital dwarfing syndromes as two of the more loosely associated syndromes that correlate with the possibility of being diagnosed with Moyamoya disease later in life. [17] There is also research that has shown that certain radiographic biomarkers that lead to the diagnosis of moyamoya disease have been identified. ... At least one case of simultaneous unilateral moyamoya syndrome and ipsilateral dural arteriovenous fistula has been reported at the Barrow Neurological Institute . ... Michael; Smith, Edward R. (2009). "Moyamoya Disease and Moyamoya Syndrome" . New England Journal of Medicine . 360 (12): 1226–1237. doi : 10.1056/NEJMra0804622 . ... External links [ edit ] International Website for Informations about Diagnostics and Treatment of Moyamoya Patients: https://www.moyamoya.eu Orphanet's disease page on Moyamoya disease Classification D ICD - 10 : Xxx.x ICD - 9-CM : xxx MeSH : D009072 External resources Patient UK : Moyamoya disease v t e Cerebrovascular diseases including stroke Ischaemic stroke Brain Anterior cerebral artery syndrome Middle cerebral artery syndrome Posterior cerebral artery syndrome Amaurosis fugax Moyamoya disease Dejerine–Roussy syndrome Watershed stroke Lacunar stroke Brain stem Brainstem stroke syndrome Medulla Medial medullary syndrome Lateral medullary syndrome Pons Medial pontine syndrome / Foville's Lateral pontine syndrome / Millard-Gubler Midbrain Weber's syndrome Benedikt syndrome Claude's syndrome Cerebellum Cerebellar stroke syndrome Extracranial arteries Carotid artery stenosis precerebral Anterior spinal artery syndrome Vertebrobasilar insufficiency Subclavian steal syndrome Classification Brain ischemia Cerebral infarction Classification Transient ischemic attack Total anterior circulation infarct Partial anterior circulation infarct Other CADASIL Binswanger's disease Transient global amnesia Haemorrhagic stroke Extra-axial Epidural Subdural Subarachnoid Cerebral/Intra-axial Intraventricular Brainstem Duret haemorrhages General Intracranial hemorrhage Aneurysm Intracranial aneurysm Charcot–Bouchard aneurysm Other Cerebral vasculitis Cerebral venous sinus thrombosis v t e Diseases of the nervous system , primarily CNS Inflammation Brain Encephalitis Viral encephalitis Herpesviral encephalitis Limbic encephalitis Encephalitis lethargica Cavernous sinus thrombosis Brain abscess Amoebic Brain and spinal cord Encephalomyelitis Acute disseminated Meningitis Meningoencephalitis Brain / encephalopathy Degenerative Extrapyramidal and movement disorders Basal ganglia disease Parkinsonism PD Postencephalitic NMS PKAN Tauopathy PSP Striatonigral degeneration Hemiballismus HD OA Dyskinesia Dystonia Status dystonicus Spasmodic torticollis Meige's Blepharospasm Athetosis Chorea Choreoathetosis Myoclonus Myoclonic epilepsy Akathisia Tremor Essential tremor Intention tremor Restless legs Stiff-person Dementia Tauopathy Alzheimer's Early-onset Primary progressive aphasia Frontotemporal dementia / Frontotemporal lobar degeneration Pick's Dementia with Lewy bodies Posterior cortical atrophy Vascular dementia Mitochondrial disease Leigh syndrome Demyelinating Autoimmune Inflammatory Multiple sclerosis For more detailed coverage, see Template:Demyelinating diseases of CNS Episodic/ paroxysmal Seizures and epilepsy Focal Generalised Status epilepticus For more detailed coverage, see Template:Epilepsy Headache Migraine Cluster Tension For more detailed coverage, see Template:Headache Cerebrovascular TIA Stroke For more detailed coverage, see Template:Cerebrovascular diseases Other Sleep disorders For more detailed coverage, see Template:Sleep CSF Intracranial hypertension Hydrocephalus Normal pressure hydrocephalus Choroid plexus papilloma Idiopathic intracranial hypertension Cerebral edema Intracranial hypotension Other Brain herniation Reye syndrome Hepatic encephalopathy Toxic encephalopathy Hashimoto's encephalopathy Both/either Degenerative SA Friedreich's ataxia Ataxia–telangiectasia MND UMN only: Primary lateral sclerosis Pseudobulbar palsy Hereditary spastic paraplegia LMN only: Distal hereditary motor neuronopathies Spinal muscular atrophies SMA SMAX1 SMAX2 DSMA1 Congenital DSMA Spinal muscular atrophy with lower extremity predominance (SMALED) SMALED1 SMALED2A SMALED2B SMA-PCH SMA-PME Progressive muscular atrophy Progressive bulbar palsy Fazio–Londe Infantile progressive bulbar palsy both: Amyotrophic lateral sclerosis
Description In moyamoya disease, stenosis of the intracranial portion of the internal carotid artery leads to secondary establishment of intracranial compensatory anastomoses at different levels (leptomeninges, basal ganglia, and transdural) (summary by Sakurai et al., 2004). For a general phenotypic description and a discussion of genetic heterogeneity of moyamoya disease, see MYMY1 (252350). Mapping Sakurai et al. (2004) searched for loci linked to moyamoya disease in 12 Japanese families using 428 microsatellite markers and found significant evidence for linkage to 8q23 (maximum lod score of 3.6 at marker D8S546) and suggestive evidence for linkage to 12p12 (maximum lod score of 2.3 at marker D12S1690).
A number sign (#) is used with this entry because evidence suggests that susceptibility to moyamoya disease-2 (MYMY2) may be conferred by variation in the RNF213 gene (613768) on chromosome 17q25. Description Moyamoya disease is a progressive cerebral angiopathy characterized by bilateral internal carotid artery stenosis and abnormal collateral vessels. The abnormal vessels resemble a 'puff of smoke' (moyamoya) on cerebral angiogram. Affected individuals can develop transient ischemic attacks and/or cerebral infarction, and rupture of the collateral vessels can cause intracranial hemorrhage (summary by Kamada et al., 2011). For a general phenotypic description and a discussion of genetic heterogeneity of moyamoya disease, see MYMY1 (252350).
Researchers believe that Moyamoya disease is an inherited condition because it tends to run in families. Moyamoya syndrome is a related term that refers to cases of moyamoya disease that occur in association with other conditions or risk factors, such as neurofibromatosis , tuberculosis meningitis , sickle cell disease , leptospirosis , brain tumors, Sturge-Weber syndrome , and tuberous sclerosis .
A number sign (#) is used with this entry because of evidence that moyamoya disease-5 (MYMY5) is caused by heterozygous mutation in the ACTA2 gene (102620) on chromosome 10q23. See also familial thoracic aortic aneurysm-6 (AAT6; 611788), which is an allelic vascular disorder. Description Moyamoya disease is a cerebrovascular disorder caused by stenotic changes of terminal portions of the internal carotid arteries accompanied by surrounding fine arterial collateral vessels. These vascular networks resemble a 'puff of smoke' (Japanese: moyamoya) in angiographic imaging (summary by Roder et al., 2011). For a general phenotypic description and a discussion of genetic heterogeneity of moyamoya disease, see MYMY1 (252350).
See also MYMY4 (300845), an X-linked recessive syndromic disorder characterized by moyamoya disease, short stature, hypergonadotropic hypogonadism, and facial dysmorphism.
These changes may have different causes and symptoms. This is known as moyamoya syndrome. Moyamoya syndrome is also associated with certain conditions, such as Down syndrome, sickle cell anemia, neurofibromatosis type 1 and hyperthyroidism. ... This strongly suggests a genetic component. Medical conditions. Moyamoya syndrome sometimes occurs in association with other disorders, including neurofibromatosis type 1, sickle cell disease and Down syndrome, among many others.
The term MMD is used when there is no cause and Moyamoya syndrome (MMS) when the disease is associated with other diseases (sickle cell anemia, neurofibromatosis; see these terms). ... Differential diagnosis MMD may develop in an isolated manner but can also be associated with other diseases when it is known as MMS: typical angiographic MMDfeatures associated with other diseases, e.g. sickle cell anemia, Down syndrome, neurofibromatosis type 1 (see these terms) and many others.
They may also present with extraimmune manifestations like neurodevelopmental deficit, sensorineural deafness, and hepatic abnormalities (SCID due to adenosine deaminase (ADA) deficiency;) with sensorineural deafness (reticular dysgenesis).Others may show microcephaly with neurodevelopmental delay (e.g. LIG4 syndrome; see these terms). Etiology The X-linked form is caused by mutations of the IL2RG gene (Xq13) encoding the common gamma chain. ... Differential diagnosis Differential diagnoses include other combined B-cell and T-cell disorders, 22q11.2 deletion syndrome, congenital TORCH infection, X-linked or autosomal recessive agammaglobulinemia, and other forms of hypogammaglobulinemia (see these terms).
Severe combined immunodeficiencies (SCID) are inherited immune system disorders characterized by abnormalities with responses of both T cells and B cells (specific types of white blood cells needed for immune system function). Common signs and symptoms include an increased susceptibility to infections including ear infections; pneumonia or bronchitis; oral thrush; and diarrhea. Due to recurrent infections, children with SCID do not grow and gain weight as expected ( failure to thrive ). SCID may be caused by mutations in any of several genes and can be inherited in an X-linked recessive (most commonly) or autosomal recessive manner. The most common type of SCID is called X-linked severe combined immunodeficiency (XSCID).
Intellectual disabilities (IDs) or intellectual development disorder (IDD, previously called mental retardation) and global developmental delay (GDD) Motor disorders including developmental coordination disorder , stereotypic movement disorder , and tic disorders (such as Tourette's syndrome ) Neurogenetic disorders , such as fragile-X syndrome , Down syndrome , [3] Rett syndrome , hypogonadotropic hypogonadal syndromes [4] Specific learning disorders , like dyslexia or dyscalculia . ... By contrast, adoption at an early age mitigated some of the effects of earlier institutionalization (abnormal psychology) . [9] Genetic disorders [ edit ] Main article: Genetic disorder A child with Down syndrome A prominent example of a genetically determined neurodevelopmental disorder is Trisomy 21, also known as Down syndrome . ... Bell, studying persons with family history of sex-linked "mental defects". [11] Rett syndrome , another X-linked disorder, produces severe functional limitations. [12] Williams syndrome is caused by small deletions of genetic material from chromosome 7 . [13] The most common recurrent Copy Number Variannt disorder is 22q11.2 deletion syndrome (formerly DiGeorge or velocardiofacial syndrome), followed by Prader-Willi syndrome and Angelman syndrome . [14] Immune dysfunction [ edit ] Main article: Immune-mediated disease Immune reactions during pregnancy , both maternal and of the developing child, may produce neurodevelopmental disorders. ... "Submicroscopic Deletion in Patients with Williams-Beuren Syndrome Influences Expression Levels of the Nonhemizygous Flanking Genes" . ... Retrieved 2008-08-02 . ^ Fetal alcohol syndrome: guidelines for referral and diagnosis (PDF).
The International League Against Epilepsy (ILAE) provided a classification of the epilepsies and epileptic syndromes in 1989 as follows: [66] Localization-related epilepsies and syndromes Unknown cause (e.g. benign childhood epilepsy with centrotemporal spikes) Symptomatic/ cryptogenic (e.g. temporal lobe epilepsy ) Generalized Unknown cause (e.g. childhood absence epilepsy) Cryptogenic or symptomatic (e.g. ... These are associated with frequent seizures that are resistant to treatment and severe cognitive dysfunction, for instance Lennox–Gastaut syndrome and West syndrome . [71] Genetics is believed to play an important role in epilepsies by a number of mechanisms. ... Others are included in symptomatic despite a presumed genetic cause (in at least in some cases), for instance Lennox-Gastaut syndrome . [69] Clinical syndromes in which epilepsy is not the main feature (e.g. Angelman syndrome ) were categorized symptomatic but it was argued to include these within the category idiopathic . [69] Classification of epilepsies and particularly of epilepsy syndromes will change with advances in research. ... In the diagnosis of epilepsy, electroencephalography may help distinguish the type of seizure or syndrome present. In children it is typically only needed after a second seizure.
Overview Epilepsy — also known as a seizure disorder — is a brain disorder that causes recurring seizures. There are many types of epilepsy. In some people, the cause can be identified. In others, the cause isn't known. Epilepsy is common. It's estimated that 1 in 26 people develops the disorder, according to the Epilepsy Foundation. Epilepsy affects people of all genders, races, ethnic backgrounds and ages. Seizure symptoms can vary widely. Some people may lose awareness during a seizure but others don't.
Only time and the courts will tell how right, or wrong ASHRAE is. [55] [56] See also [ edit ] Aerotoxic syndrome Havana syndrome Healthy building Multiple chemical sensitivity NASA Clean Air Study Somatization disorder Fan death References [ edit ] ^ "Sick Building Syndrome" (PDF) . ... CS1 maint: multiple names: authors list ( link ) ^ The sick building syndrome as a part of the autoimmune (auto-inflammatory) syndrome induced by adjuvants . ncbi.nlm.nih.gov]. ^ Bauer R. ... Of Norway)" . 2018-05-13. ^ "NASA: 18 Plants Purify Air, Sick Building Syndrome" . 2016-09-20. ^ "Sick Building Syndrome – How Plants Can Help" . ^ How to deal with sick building syndrome: Guidance for employers, building owners and building managers. (1995). ... Åke Thörn, The Emergence and preservation of sick building syndrome , KI 1999. Charlotte Brauer, The sick building syndrome revisited , Copenhagen 2005. Michelle Murphy, Sick Building Syndrome and the Problem of Uncertainty , 2006.
The other features were typical of Hunter syndrome, which was confirmed by enzyme assay. ... Ochiai et al. (2003) concluded that recognition of extensive Mongolian spots is essential as it may lead to early diagnosis in patients with mild forms of Hunter syndrome. Huang et al. (2015) described chorioretinopathy in 5 patients with Hunter syndrome. ... Inheritance Hunter syndrome is an X-linked recessive disorder (McKusick, 1972). ... Clarke et al. (1990) described clinically and biochemically typical Hunter syndrome in a karyotypically normal girl. ... In 36 Russian patients with Hunter syndrome, Karsten et al. (1998) found 25 different mutations, of which 15 were novel.
Mucopolysaccharidosis type 2 (MPS2, see this term), severe form (MPS2S), is associated with a massive accumulation of glycosaminoglycans and a wide variety of symptoms including a rapidly progressive cognitive decline; it is most often fatal in the second or third decade. Epidemiology Prevalence of MPS2 at birth in Europe is 1/166,000, the severe form accounts for at least two-thirds of all cases. Clinical description MPS2S presents with the spectrum of symptoms observed in all MSP2 (see this term) cases, often with an earlier presentation. MPS2S patients have a decrease in growth rate in early to mid-childhood, along with respiratory difficulties and a thickening of lips and nostrils as well as an enlarged and protruding tongue (distinctive facies), which may become evident between 2-4 years of age. Psychomotor milestones are delayed, and regression often occurs. Between the ages of 2-6 years patients begin to exhibit aggressive behavior and hyperactivity, often lacking any sense of danger as they follow a course of progressive cognitive decline.
Phalangeal joints are universally contracted resulting in claw-like hands; carpal tunnel syndrome is common. Spastic paresis due to spinal cord compression at the cranio-cervical region may also occur.
A lysosomal storage disease with multisystemic involvement leading to a massive accumulation of glycosaminoglycans and a wide variety of symptoms including distinctive coarse facial features, short stature, cardio-respiratory involvement and skeletal abnormalities. It manifests as a continuum varying from a severe form with neurodegeneration to an attenuated form without neuronal involvement. Epidemiology Mucopolysaccharidosis type 2 (MPS2) prevalence at birth in Europe is 1/166,000. It is an X-linked recessive disorder; very rare cases of female presentation have been reported. Clinical description MPS2 patients appear healthy at birth, with initial symptoms appearing between 18 months and 4 years of age.
Mucopolysaccharidosis type II (MPS II; also known as Hunter syndrome) is an X-linked multisystem disorder characterized by glycosaminoglycan (GAG) accumulation. ... Diagnosis The diagnosis of mucopolysaccharidosis type II (MPS II; also known as Hunter syndrome) cannot be made on clinical findings alone. ... Recommendations for the diagnosis and management of MPS II have been developed by the Hunter Syndrome European Expert Council (HSEEC) using an evidence-based approach [Scarpa et al 2011]. ... Clinical Characteristics Clinical Description Mucopolysaccharidosis type II (MPS II; also known as Hunter syndrome) has multisystem involvement with significant variability in both age of onset and rate of progression. ... Differential Diagnosis The differential diagnosis for mucopolysaccharidosis type II (MPS II, or Hunter syndrome) essentially includes all of the other MPS disorders, given the significant overlap of clinical presentation and radiologic findings (see MPS I).
Mucopolysaccharidosis type II (MPS II), also known as Hunter syndrome, is a condition that affects many different parts of the body and occurs almost exclusively in males. ... Some individuals with MPS II develop problems with the light-sensitive tissue in the back of the eye (retina ) and have reduced vision. Carpal tunnel syndrome commonly occurs in children with this disorder and is characterized by numbness, tingling, and weakness in the hand and fingers.
Mucopolysaccharidosis II (MPS II) is an inherited disorder of carbohydrate metabolism that occurs almost exclusively in males. It is characterized by distinctive facial features, a large head, hydrocephalus, enlargement of the liver and spleen (hepatosplenomegaly), umbilical or inguinal hernia , and hearing loss. Individuals with this condition may additionally have joint deformities and heart abnormalities involving the valves. MPS II is caused by mutations in the IDS gene and is inherited in an X-linked manner. There is a wide range in severity of symptoms present in individuals with MPS II.
Humeroradial synostosis also occurs with the syndrome of multiple synostoses with brachymesophalangy (186500), with Pfeiffer syndrome (101600), and with the SC phocomelia syndrome (269000). ... Since these patients had patellar subluxation or hypoplasia as well, it is likely that they had the nail-patella syndrome (161200), not the disorder discussed in this entry.
Humero-radial synostosis is a rare, genetic, congenital joint formation defect disorder characterized by uni- or bilateral fusion of the humerus and radius bones at the elbow level, with or without associated ulnar and carpal/metacarpal deficiency, leading to loss of elbow motion and, in many cases, functional arm incapacity. Bowing of radius may be additionally present.
Hunter et al. (1976) concluded that humeroradial synostosis occurs as either a dominant or a recessive (see 236400) malformation and also as part of the SC phocomelia syndrome (269000). Families with dominant inheritance were reported by Romanus (1933), Fuhrmann et al. (1966) and Mouchet and St. ... The authors considered this to be a distinct syndrome. Humeral 'bifurcation' due to humeroradial synostosis, and amelia (see 601360) are both very rare limb anomalies.
Archibald's sign Differential diagnosis Turners syndrome Archibald's sign (also known as Archibald's metacarpal sign ) refers to a feature in the hand characterized by a shortening of the fourth or/and fifth metacarpals when the fist is clenched. [1] [2] [3] Contents 1 Causes 2 See also 3 References 4 External links Causes [ edit ] The causes of Archibald's sign are not known; however, it has been discovered that it occurs more often in populations with certain disorders. Archibald's sign appears to be more common in individuals who have Turners syndrome . It also seems to be more commonly found in pseudohypoparathyroidism of Albright's hereditary osteodystrophy, brachydactyly , acrodysostosis , and occasionally with homocystinuria . [4] See also [ edit ] Pseudohypoparathyroidism References [ edit ] ^ Jameson, J. Larry (1999). Hormone Resistance Syndromes . Springer Science & Business Media. p. 41. ... PMID 22629539 . ^ Archibald’s sign | Signs and Syndromes ^ Deshmukh V (2012). "Images in endocrinology: Archibald's metacarpal sign" .