Erondu–Cymet syndrome is a syndrome caused by a translocation on the 21st chromosome . [1] The genetic karyotype for people with this condition is 46, XY, inv(21)(q11.2q22.1). Findings in these patients include hypotension , hypoxemia , seizures , and impairment of cognitive ability . [1] Patients with this condition may have persistent left superior vena cava that drains into the left atrium , as well as pulmonary arteriovenous malformations . Erondu–Cymet syndrome was discovered in 2006 by Ugochi Erondu and Tyler Cymet . [1] See also [ edit ] Trisomy 21 References [ edit ] ^ a b c Erondu, U. ... "Chromosome 21 abnormalities a review and report of a case of erondu-cymet syndrome". Comprehensive Therapy . 32 (4): 254–260. doi : 10.1007/BF02698072 .
Satchmo's syndrome Satchmo's syndrome is a disorder due to the rupture of Orbicularis oris muscle in trumpet players. [1] This syndrome is named after the nickname of Louis Armstrong , the trumpet player from New Orleans , because apparently it fits with the symptoms he experienced in 1935. ... The muscle rupture can also be corrected surgically, in which case the trumpet player can perform as well as they did before the injury. [1] References [ edit ] ^ a b "Rupture of the Orbicularis Oris in Trumpet Players (Satchmo's Syndrome)" . www.clinicaplanas.com . Retrieved 19 January 2018 .
Olmsted syndrome , also known as mutilating palmoplantar keratoderma (PPK) with periorificial keratotic plaques, is a very rare congenital (present from birth) disorder causing abnormal growth and thickening of skin. ... The abnormal skin thickening in Olmsted syndrome tends to get worse over time. People with this condition are at increased risk for infections and for skin cancer. Olmsted syndrome is caused by genetic changes ( DNA variants ) in the TRPV3 and the MBTPS2 gene. Many different forms of inheritance have been reported, although many cases of Olmsted syndrome are sporadic (a new case in a family).
Description Olmsted syndrome is a rare congenital disorder characterized by bilateral mutilating palmoplantar keratoderma (PPK) and periorificial keratotic plaques with severe pruritus of lesions. ... Poulin et al. (1984) described what they stated was the third case of Olmsted syndrome, citing Olmsted (1927) and Costa (1962). ... Lin et al. (2012) studied 5 sporadic Chinese patients with Olmsted syndrome, and 1 patient whose affected daughter died at 2 years of age. ... Reviews Larregue et al. (2000) reviewed 20 cases of Olmsted syndrome consisting of 18 previously published and 2 new cases, unrelated boys, from their report. ... There was partial cutaneous expression of Olmsted syndrome in 2 families, in which some affected individuals did not exhibit periorificial involvement.
Please introduce links to this page from related articles ; try the Find link tool for suggestions. ( July 2011 ) Plum syndrome Other names Oculocerebroosseous syndrome Plum syndrome is a very rare genetic disorder. ... /is. 3/2-4(149-155), 0191-2771 (1979) ^ http://www.checkorphan.org/disease/plum-syndrome accessed 5 July 2011 External links [ edit ] Classification D External resources Orphanet : 2708 This genetic disorder article is a stub .
Autoimmune polyendocrine syndrome type 3 Other names Autoimmune polyendocrinopathy type 3 Autoimmune polyendocrine syndromes (APS) occur when more than one autoimmune disease occurs in endocrine glands . These syndromes are also called Polyendocrine Autoimmune Disorders. In Type 3, autoimmune thyroiditis and another endocrine autoimmune disease are present, but the adrenal cortex is not involved. [1] References [ edit ] ^ "Polyglandular Autoimmune syndrome Type 3 (PAS 3)" . autoimmune.pathology.jhmi.edu .
A rare, endocrine disease characterized by autoimmune thyroid disease associated with at least one other autoimmune disease, such as type I diabetes mellitus, chronic atrophic gastritis, pernicious anemia, vitiligo, alopecia, or myasthenia gravis, but excluding Addison disease.
Autoimmune polyglandular syndrome (APS) type 3 is an autoimmune condition that affects the body's endocrine glands. The syndrome, which typically affects women during middle age, results from failure of the glands to produce their hormones. ... The other autoimmune diseases may include diabetes mellitus, pernicious anemia , vitiligo , alopecia , myasthenia gravis , and Sjogren's syndrome . The adrenal cortex (the outer layer of the adrenal gland) is not involved. There are three types of autoimmune polyglandular syndrome type 3: APS3A - Autoimmune thyroiditis with immune-mediated diabetes mellitus (IMDM) APS3B - Autoimmune thyroiditis with pernicious anemia APS3C - Autoimmune thyroiditis with vitiligo and/or alopecia and/or other organ-specific autoimmune disease The cause is still unknown, but it is believed that it may be an autoimmune disease, where environmental factors (such as viral infections) and genetic factors (such as variations in the HLA II genes) are also involved in the disease.
14q12 microdeletion syndrome is a recently described syndrome characterized by severe intellectual deficit, with a normal neonatal period, followed by a phase of regression at the age of 3-6 months. ... Clinical description The neurological picture evokes the congenital variant of atypical Rett syndrome (see this term). The phenotype includes other features: postnatal growth retardation and microcephaly, hypotonia, epilepsy, stereotypic movements and feeding problems. Dysmorphic features associate prominent metopic suture, bilateral epicanthic folds, bulbous nasal tip, tented upper lip, everted lower lip and large ears. Etiology This syndrome is caused by an interstitial deletion encompassing 14q12.
Unreliable citations may be challenged or deleted. ( April 2012 ) ( Learn how and when to remove this template message ) May–White syndrome Specialty Neurology May–White syndrome is a rare familial progressive myoclonus epilepsy with lipomas , deafness , and ataxia . This syndrome is probably a familial form of mitochondrial encephalomyopathy . [1] References [ edit ] ^ "May-White syndrome" .
Short anagen syndrome Specialty Dermatology Short anagen syndrome is a condition where hair does not grow beyond a short length, due to an unusually short duration of active hair growth ( anagen phase ). [1] Most cases are associated with fine blond hair . [2] See also [ edit ] List of cutaneous conditions References [ edit ] ^ Giacomini, F; Starace M; Tosti A (June 2010). "Short Anagen Syndrome". Pediatric Dermatology . 28 (2): 133–4. doi : 10.1111/j.1525-1470.2010.01165.x . PMID 20553398 . ^ Avashia, N; Woolery-Lloyd H; Tosti A; Romanelli P (December 2010). "Short anagen syndrome in an African American woman".
Ivemark syndrome is a rare congenital condition that affects multiple organ systems of the body. Ivemark syndrome is classified as a heterotaxy disorder or a laterality disorder. ... Symptoms vary greatly depending on the specific abnormalities present; however if heart malformations are complex, the prognosis is often poor. The exact cause of Ivemark syndrome is not known. Most cases are sporadic (isolated and seemingly random). Unlike some other heterotaxy disorders, causative gene mutations have not been identified. There is no cure for Ivemark syndrome. Treatment might include surgical repair of heart malformations when appropriate and prophylactic antibiotic therapy to reduce the incidence of infection due to the absence or poor function of the spleen.
Asplenia with cardiovascular anomalies Other names Ivemark syndrome This condition is inherited in an autosomal recessive manner Specialty Medical genetics Asplenia with cardiovascular anomalies , also known as Ivemark syndrome and right atrial isomerism , [1] is an example of a heterotaxy syndrome . ... You can help by adding to it . ( July 2017 ) References [ edit ] ^ a b "Ivemark Syndrome Association" . Patient UK . 2008-11-10. ... "Pancreatic aplasia in a fetus with asplenia-cardiovascular defect-heterotaxy (Ivemark syndrome)". Birth Defects Research Part A: Clinical and Molecular Teratology . 82 (8): 601–4. doi : 10.1002/bdra.20467 . ... "Implications of agenesis of the spleen on the pathogenesis of conotruncus anomalies in childhood; an analysis of the heart malformations in the splenic agenesis syndrome, with fourteen new cases". Acta Paediatrica Supplement . 44 (Suppl 104): 7–110. doi : 10.1111/j.1651-2227.1955.tb05346.x . PMID 13292296 . S2CID 221418617 . ^ "Ivemark Syndrome" . National Organization for Rare Diseases .
Both RAI and LAI malformation complexes have classically been referred to as Ivemark syndrome (summary by Eronen et al., 2004 and Kaasinen et al., 2010). ... Ivemark (1955) described the pathology of the splenic agenesis syndrome and reported 14 new cases with autopsy, as well as 55 cases collected from the literature. ... Simpson and Zellweger (1973) summarized various features of Ivemark syndrome. Hypoplasia of the spleen is sometimes the finding rather than aplasia. ... Rose et al. (1975) reported 2 sisters with the polysplenia syndrome, and Hallett et al. (1979) described 2 affected brothers. ... Cesko et al. (1997) described 2 sibs with Ivemark syndrome. In both cases, absent spleen, symmetric liver, and trilobed lungs were associated with complex cardiac malformations.
A rare heterotaxia characterized by complex congenital heart malformations and abnormal lateralization of other thoracic and abdominal organs due to embryonic disruption of the left-right axis development. Cardiac defects include dextrocardia or mesocardia, common atrioventricular valve associated with complete atrioventricular septal defect or common atrium, transposition or malposition of the great arteries, and total anomalous pulmonary venous drainage, among others. Cardiac arrhythmias are frequently observed. Typical abnormalities of other organs are bilateral trilobed lungs, midline liver, and asplenia. Patients present in the newborn period with severe cardiac failure and cyanosis. Prognosis is poor.
Sillence syndrome (brachydactyly-symphalangism syndrome) resembles type A1 brachydactyly (variable shortening of the middle phalanges of all digits) with associated symphalangism (producing a distal phalanx with the shape of a chess pawn). Scoliosis, clubfoot and tall stature are also characteristic. Epidemiology The syndrome has been described in one family with five affected individuals from three successive generations.
Multiple synostoses syndrome (MSS) is a rare developmental bone disorder characterized by proximal symphalangism of the fingers and/or toes often associated with fusion of carpal and tarsal, humeroradial, and cervical spine joints.
XK aprosencephaly syndrome is a very rare syndromic type of cerebral malformation characterized by aprosencephaly (absence of telencephalon and diencephalon), oculo-facial anomalies (i.e. ocular hypotelorism or cyclopia, malformation/absence of nasal structures, cleft lip), preaxial limb defects (i.e. hypoplastic hands, absent halluces) and various other anomalies including ambiguous genitalia, imperforate anus, and vertebral anomalies. The syndrome is thought to have an autosomal recessive mode of inheritance.
Congenital disorder XK aprosencephaly Other names Garcia-Lurie syndrome,Aprosencephaly-atelencephaly syndrome XK aprosencephaly (also called Garcia-Lurie syndrome, aprosencephaly, and aprosencephaly-atelencephaly syndrome ) is an extremely rare congenital disorder characterized by the absence of the embryonic forebrain . ... The syndromic form is known as XK aprosencephaly, with 'X' and 'K' referring to the surnames of the first two patients described with aprosencephaly. [7] References [ edit ] ^ a b c d e "XK aprosencephaly | Genetic and Rare Diseases Information Center (GARD) – an NCATS Program" . rarediseases.info.nih.gov . ... The bedside dysmorphologist : classic clinical signs in human malformation syndromes and their diagnostic significance . ... CS1 maint: numeric names: authors list ( link ) ^ a b c "Orphanet: XK aprosencephaly syndrome" . www.orpha.net . Retrieved 2019-01-23 . ^ Pasquier, L (2005). ... PMID 3287923 . ^ "OMIM Entry – 207770 – APROSENCEPHALY SYNDROME" . Online Mendelian Inheritance in Man .
Deletion 6q16 syndrome is a Prader-Willi like syndrome characterized by obesity, hyperphagia, hypotonia, small hands and feet, eye/vision anomalies, and global developmental delay. Epidemiology The disease has been described in five patients. Etiology Deletion 6q16 syndrome is due to an interstitial deletion located at 6q16.1q16.2.
Weaver-Williams syndrome is a multiple congenital anomalies syndrome characterized by moderate-to-severe intellectual disability, decreased muscle mass, microcephaly, facial dysmorphism (prominent ears, midfacial hypoplasia, small mouth and cleft palate), clinodactyly of the fingers, delayed osseous maturation and generalized bone hypoplasia. The syndrome has been described in a brother and sister and an autosomal recessive mode of inheritance has been suggested.
Ophthalmoplegia-intellectual disability-lingua scrotalis syndrome is a rare, genetic, syndromic intellectual disability disorder characterized by congenital, external, nuclear ophthalmoplegia, lingua scrotalis, progressive chorioretinal sclerosis and intellectual disability. Bilateral ptosis, bilateral facial weakness, Parinaud's syndrome, convergence paresis and myopia may be associated.
Levic et al. (1975) described this combination in a mother, 3 daughters and 2 sons of a Yugoslav family. Neuro - Mental retardation Eyes - Progressive ophthalmoplegia Mouth - Scrotal tongue Inheritance - Autosomal dominant ▲ Close
Jones syndrome is a very rare condition characterized by gingival fibromatosis (enlargement and overgrowth of the gums) and progressive, sensorineural hearing loss. ... Excessive growth of the gums may cause displacement of teeth, over-retention of primary teeth, and increased spacing. Jones syndrome is inherited in an autosomal dominant manner, but the underlying genetic cause is not yet known. Only a few families with Jones syndrome have been reported.
Whereas 9 persons had GF without demonstrated or reported deafness, all 16 persons with a hearing loss had GF. The proband with the full syndrome was 10 years old. Hartsfield et al. (1985) reported 5 cases of GFD in 3 generations with male-to-male transmission.
Not to be confused with Dressler syndrome . Drug reaction with eosinophilia and systemic symptoms Other names DRESS syndrome Specialty Immunology , dermatology Drug reaction with eosinophilia and systemic symptoms ( DRESS ), also termed drug-induced hypersensitivity syndrome (DIHS), is a rare reaction to certain medications. ... The reports often named the disorder based on the medication evoking it, e.g. the anticonvulsant hypersensitivity syndrome , allopurinol hypersensitivity syndrome , and dapsone hypersensitivity syndrome . [4] In 1996, however, the term DRESS syndrome was coined in a report attempting to simplify the terminology and consolidate these various clearly related syndromes into a single underlying disorder. [5] [6] Contents 1 Signs and symptoms 2 Causes 2.1 Medications 2.2 Genetics 3 Pathophysiology 3.1 Human leukocyte antigens 3.2 T-cell receptors 3.3 ADME 3.4 Viral reactivation 4 Preventative 5 Treatment 6 Terminology 7 See also 8 References 9 Further reading Signs and symptoms [ edit ] The symptoms of DRESS syndrome usually begin 2 to 6 weeks but uncommonly up to 8–16 weeks after exposure to an offending drug. ... Other synonymous names and acronyms include drug-induced hypersensitivity syndrome (DIHS or DHiS), anticonvulsant hypersensitivity syndrome, drug-induced delayed multiorgan hypersensitivity syndrome, drug-induced pseudolymphoma, anticonvulsant hypersensitivity syndrome , allopurinol hypersensitivity syndrome , dapsone syndrome , and dapsone hypersensitivity syndrome . [1] [4] [5] [6] See also [ edit ] SCARs Adverse drug reaction Drug allergy Drug intolerance Drug tolerance List of skin conditions Eosinophilic myocarditis associated with the DRESS syndrome References [ edit ] ^ a b Walsh SA, Creamer D (January 2011). ... PMID 13618867 . ^ Corneli HM (2017). "DRESS Syndrome: Drug Reaction With Eosinophilia and Systemic Symptoms". ... "Current Perspectives on Stevens-Johnson Syndrome and Toxic Epidermal Necrolysis".
Etiology Onset usually occurs 2-6 weeks after administration of the causal medication. DRESS syndrome is most frequently associated with anticonvulsants and sulfonamides but other medications (allopurinol, cyclosporine, azathioprine, gold salts and antiviral agents) have also been implicated.
Schnitzler syndrome Other names Schnitzler's syndrome Specialty Immunology Schnitzler syndrome or Schnitzler's syndrome is a rare disease characterised by onset around middle age of chronic hives (urticaria) and periodic fever , bone pain and joint pain (sometimes with joint inflammation ), weight loss , malaise , fatigue , swollen lymph glands and enlarged spleen and liver . [1] Schnitzler syndrome is considered an autoinflammatory disorder and is generally treated with anakinra , which inhibits interleukin 1 . ... "Schnitzler Syndrome: a Review". Current Rheumatology Reports . 19 (8): 46. doi : 10.1007/s11926-017-0673-5 . ... S2CID 6023980 . ^ Simon A, Asli B, Braun-Falco M, De Koning H, Fermand JP, Grattan C, et al. (2013). "Schnitzler's syndrome: diagnosis, treatment, and follow-up" . ... S2CID 12831354 . ^ Kurian A, Lee JK, Vadas P (December 2010). "Schnitzler syndrome with cold-induced urticaria" . ... PMID 17586002 . ^ a b de Koning HD (2014). "Schnitzler's syndrome: lessons from 281 cases" . Clinical and Translational Allergy . 4 : 41. doi : 10.1186/2045-7022-4-41 .
Schnitzler syndrome is a rare, underdiagnosed disorder in adults characterized by recurrent febrile rash, bone and/or joint pain, enlarged lymph nodes, fatigue, a monoclonal IgM component, leukocytosis and systemic inflammatory response. ... Etiology Etiology remains unclear but the syndrome is probably an acquired auto-inflammatory disorder. ... Differential diagnosis Differential diagnosis includes adult-onset Still's disease, hypocomplementic urticarial vasculitis, cryoglobulinemia, hyper IgD syndrome, and acquired C1 inhibitor deficiency (see these terms). ... Although these complications have only been reported in about 20% of cases, their incidence may be higher since they generally develop more than 10 to 20 years after the first signs of the syndrome.
The pain is worse during or after sexual intercourse , and can be worse just before the onset of the menstrual period . [5] Women with pelvic congestion syndrome have a larger uterus and a thicker endometrium . 56% of women manifest cystic changes to the ovaries, [6] and many report other symptoms, such as dysmenorrhea , back pain, vaginal discharge , abdominal bloating, mood swings or depression, and fatigue. [5] Causes [ edit ] Local pelvic hormonal melieu Venous outflow obstruction, such as May-Thurner syndrome , Nutcracker syndrome , Budd-Chiari syndrome , or left renal vein thrombosis External compression due to tumor (including fibroids, endometriosis), or scarring [7] Diagnosis [ edit ] A very large (9cm) fibroid of the uterus which is causing pelvic congestion syndrome as seen on ultrasound Diagnosis can be made using ultrasound or laparoscopy testing. ... The procedure rarely requires an overnight stay in hospital and is usually performed as an outpatient procedure, and is done using local anesthetic and moderate sedation . [9] Patients report an 80% success rate, as measured by the amount of pain reduction experienced. [9] See also [ edit ] Ovarian vein syndrome Nutcracker syndrome References [ edit ] ^ a b c d e f g h i j k "Pelvic Congestion Syndrome - Women's Health Issues" . ... Retrieved 27 September 2019 . ^ a b Cheema, Omer Saadat; Singh, Pramvir (2020). "Pelvic Congeston Syndrome". Statpearls . PMID 32809625 . ... PMID 26789334 . ^ a b Brown, CL; Rizer, M; Alexander, R; Sharpe EE, 3rd; Rochon, PJ (March 2018). "Pelvic Congestion Syndrome: Systematic Review of Treatment Success" . ... S2CID 25053851 . ^ a b "Pelvic Pain (Pelvic Congestion Syndrome)" . Johns Hopkins . Retrieved December 23, 2010 .