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Bnar Syndrome
Orphanet
BNAR syndrome is a very rare multiple congenital anomaly syndrome characterized by a bifid nose (see this term) (with bulbous nasal tip but not associated with hypertelorism) with or without the presence of anal defects (i.e. anteriorly placed anus, rectal stenosis or atresia) and renal dysplasia (unilateral or bilateral renal agenesis, see these terms) and without intellectual disability. BNAR syndrome is phenotypically related to Fraser syndrome and oculotrichoanal syndrome (see these terms).
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Moebius Syndrome-Axonal Neuropathy-Hypogonadotropic Hypogonadism Syndrome
Orphanet
This syndrome is characterized by the association of Möbius syndrome (congenital facial palsy with impaired ocular abduction; see this term) with peripheral axonal neuropathy and hypogonadotropic hypogonadism.
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Alport Syndrome 1, X-Linked
Omim
See also benign familial hematuria (BFH; 141200), a phenotypically similar, but milder disorder. Alport syndrome is also a feature of 2 contiguous gene deletion syndromes involving the COL4A5 gene: Alport syndrome and diffuse leiomyomatosis (308940) and Alport syndrome, mental retardation, midface hypoplasia, and elliptocytosis (AMME; 300194). ... One of 3 clinical phenotypes occurred in each of the 23 kindreds: juvenile Alport syndrome with deafness, adult Alport syndrome with deafness, or adult Alport syndrome without deafness or other defects. ... IgG in sera from patients with Goodpasture syndrome does not bind to the GBM of some patients with Alport syndrome. ... They reported that all different types of mutations were observed in juvenile-type Alport syndrome whereas only glycine substitutions and splicing mutations were observed in adult-type Alport syndrome. ... Atkin et al. (1986) proposed the existence of 6 subtypes of Alport syndrome among reported kindreds: I, classic juvenile Alport syndrome with deafness; II, X-linked juvenile Alport syndrome with deafness; III, X-linked adult Alport syndrome with deafness; IV, X-linked adult Alport syndrome without deafness or other defect, that is, purely renal disease; V, autosomal Alport syndrome with deafness and thrombocytopathia (see 155100); and VI, autosomal recessive juvenile Alport syndrome with deafness (203780).COL4A3, COL4A5, COL4A4, MYH9, COL4A6, MFF-DT, ACE, REN, ACSL4, ACE2, DDR1, IGAN1, CHP1, TG, TGFB1, TRPC6, VHL, ZNF185, PIEZO1, AMMECR1, CLCN5, SOSTDC1, B3GAT1, ZEB1, INF2, COQ8B, CFHR5, RHOV, MIR21, MIB1, PAX3, STAT3, CASR, CYP24A1, EGF, EGFR, FCGRT, CFH, HLA-DRB1, IGBP1, LAMA5, LOXL2, LRPAP1, MITF, MKI67, MMP3, MMP9, AGT, NPHP1, PAX2, ACVR2A
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Dressler Syndrome
Mayo_clinic
Overview Dressler syndrome is inflammation of the sac surrounding the heart (pericarditis). ... Symptoms include chest pain, which can feel like chest pain from a heart attack. Dressler syndrome may also be called post-myocardial infarction syndrome, post-traumatic pericarditis, post-cardiac injury syndrome and post-pericardiotomy syndrome. ... Rarely, Dressler syndrome can cause more-serious complications, including: Cardiac tamponade. ... Tests that can help diagnose Dressler syndrome include: Complete blood count. Most people with Dressler syndrome have an increased white blood cell count.
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Cyclic Vomiting Syndrome
Medlineplus
Cyclic vomiting syndrome is a disorder that causes recurrent episodes of nausea, vomiting, and tiredness (lethargy). ... Many people with cyclic vomiting syndrome or abdominal migraine have a family history of migraines. ... People with any of these additional features are said to have cyclic vomiting syndrome plus. Frequency The exact prevalence of cyclic vomiting syndrome is unknown; estimates range from 4 to 2,000 per 100,000 children. ... Based on these abnormalities, cyclic vomiting syndrome is often classified as a type of dysautonomia. ... Learn more about the chromosome associated with Cyclic vomiting syndrome mitochondrial dna Inheritance Pattern In most cases of cyclic vomiting syndrome, affected people have no known history of the disorder in their family.
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Papa Syndrome
Wikipedia
PAPA syndrome Other names Pyogenic arthritis-pyoderma gangrenosum-acne syndrome [1] PAPA syndrome is inherited in an autosomal dominant pattern. PAPA syndrome is an acronym for pyogenic arthritis , pyoderma gangrenosum and acne . ... The Autoinflammatory syndromes. Curr Opin Allergy Clin Immunol 2002; 2(6): 511-516. ^ Yeon HB, Lindor HM, Seidman JG, Seidman CE et al.Pyogenic Arthritis, Pyoderma Gangrenosum, and Acne Syndrome Maps to Chromosome 15q. ... Mutations in CD2BP1 disrupt binding to PTP PEST and are responsible for PAPA syndrome, an autoinflammatory disorder. ... Pyrin binds the PSTPIP1/CD2BP1 protein, defining familial Mediterranean fever and PAPA syndrome as disorders in the same pathway.
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Yuan-Harel-Lupski Syndrome
Medlineplus
Yuan-Harel-Lupski (YUHAL) syndrome is a rare neurological condition that has a combination of features of two other disorders, Potocki-Lupski syndrome and type 1A Charcot-Marie-Tooth disease. The first signs and symptoms of YUHAL syndrome begin in infancy. Infants with YUHAL syndrome usually have weak muscle tone (hypotonia), which may lead to feeding problems. ... YUHAL syndrome is also associated with behavioral difficulties. ... Similar features are seen in individuals with type 1A Charcot-Marie-Tooth disease, although they may appear earlier in people with YUHAL syndrome, often before age 5. Abnormal development of other tissues and organs, such as the heart or kidneys, can occur in YUHAL syndrome. ... Causes YUHAL syndrome results from an extra copy (duplication ) of a small piece of chromosome 17 in each cell.
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Temtamy Syndrome
Gard
Temtamy syndrome is a developmental neurological disorder , meaning that it affects the way the brain is formed and how well it functions. ... Temtamy syndrome is caused by genetic changes (pathogenic variants or mutations) in the C12orf57 gene . The syndrome is inherited in an autosomal recessive manner. Diagnosis is based on observing symptoms of the syndrome and the results of brain imaging . The diagnosis can be confirmed with genetic testing. Treatment for Temtamy syndrome may include medications to treat seizures, as well as therapies to help manage developmental delays.
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Wartenberg's Syndrome
Wikipedia
Wartenberg's syndrome Specialty Neurology Wartenberg's syndrome is a specific mononeuropathy, caused by entrapment of the superficial branch of the radial nerve. [1] Symptoms include numbness, tingling, and weakness of the posterior aspect of the thumb. ... It is not to be confused with Wartenberg's migratory sensory neuropathy , Waardenburg syndrome , or Lateral medullary syndrome (known as Wallenberg's Syndrome). ... "Entrapment of the superficial branch of the radial nerve (Wartenberg's syndrome). A report of 52 cases". International Orthopaedics . 17 (6): 342–5. doi : 10.1007/bf00180450 .
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Cogan-Reese Syndrome
Gard
Cogan-Reese syndrome is one type of Iridocorneal Endothelial (ICE) syndrome . The ICE syndromes predominantly affect Caucasian, young to middle-aged women, and involve one eye. While there have been some cases of Cogan-Reese syndrome reported in children, the disease is typically observed in females in the mid-adult years. [1] In one study of 71 patients with ICE syndrome, the mean age at diagnosis was 51-years. Known glaucoma was present in 11 (15%) of cases. [2] While it is not yet known how to keep Cogan-Reese syndrome from progressing, the glaucoma associated with the disease can be treated with medication.
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Susac Syndrome
Gard
Susac syndrome is an autoimmune condition that affects the very small blood vessels in the brain, retina , and inner ear ( cochlea ). ... Some people may not have all signs of Susac syndrome, but instead develop only specific combinations of the symptoms. Susac syndrome affects women more than men. The age at which symptoms begin is usually between 20 and 40 years, but some people have symptoms earlier or later than this age range. The cause of Susac syndrome is still unknown. Diagnosis is based on a clinical exam and imaging tests to look for the specific signs of Susac syndrome. Treatment options include corticosteroids and cyclophosphamide as well as anticoagulation medications . Most people recover from Susac syndrome with treatment.
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Alagille Syndrome
Medlineplus
Alagille syndrome is a genetic disorder that can affect the liver, heart, and other parts of the body. One of the major features of Alagille syndrome is liver damage caused by abnormalities in the bile ducts. ... Problems associated with Alagille syndrome generally become evident in infancy or early childhood. ... Causes In more than 90 percent of cases, mutations in the JAG1 gene cause Alagille syndrome. Another 7 percent of individuals with Alagille syndrome have small deletions of genetic material on chromosome 20 that include the JAG1 gene. A few people with Alagille syndrome have mutations in a different gene, called NOTCH2 .
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Haim-Munk Syndrome
Omim
Mutations in the CTSC gene also cause Papillon-Lefevre syndrome (PLS; 245000) and aggressive periodontitis-1 (170650). ... Also, Hacham-Zadeh et al. (1978) referred to the disorder as Papillon-Lefevre syndrome and cited Gorlin et al. (1976) as considering it a clinical variant of PLS.) ... Hart et al. (1997) compared and contrasted Papillon-Lefevre syndrome and Haim-Munk syndrome. Both syndromes have severe early-onset periodontitis with loss of both dentitions, palmoplantar keratosis, and autosomal recessive inheritance. PLS also has calcification of dura mater and increased susceptibility to infections. Haim-Munk syndrome also has arachnodactyly, acroosteolysis, and onychogryphosis. ... Inheritance Puliyel and Sridharan Iyer (1986) found 20 persons with Haim-Munk syndrome in 9 sibships over 4 generations of an inbred kindred.
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Oligodontia
Orphanet
In European populations the estimated prevalence of both syndromic and non-syndromic oligodontia varies from 1/625 to 1/1,250 depending on the studies. ... WNT10A gene mutations, responsible for autosomal recessive forms of HED, odonto-onycho-dermal dysplasia and Schöpf-Schulz-Passarge syndrome (see these terms) are also seen in a substantial proportion (30 to 50% cases according to studies) of non-syndromic oligodontia cases. ... Oligodontia-cancer predisposition syndrome (see this term) is due to AXIN2 gene mutations. ... Differential diagnosis Isolated oligodontia should be distinguished from syndromic forms. Oligodontia is seen in X-linked hypohidrotic ectodermal dysplasia with immunodeficiency (HED), ECC syndrome, orofaciodigital syndrome type I and oral facial clefting syndromes such as Van Der Woude syndrome, Ellis-Van Creveld syndrome or Rapp-Hodgkin syndrome, hidrotic ectodermal dysplasia, focal facial dermal dysplasia (see these terms), oligodontia-taurodontism-hypotrichosis syndrome or trichothiodystrophies. ... Genetic counseling Genetic counseling is necessary to exclude syndromic oligodontia and discuss issues related to inheritance.
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Löfgren Syndrome
Wikipedia
Löfgren syndrome Löfgren syndrome includes some of the same symptoms as traditional sarcoidosis , and presents with erythema nodosum (especially of the lower extremities), bilateral arthritis of the ankle joints, and hilar lymphadenopathy . ( Note: Other symptoms are classically not present in Löfgren syndrome. ) Löfgren syndrome is a type of acute sarcoidosis , [1] an inflammatory disorder characterized by swollen lymph nodes in the chest, tender red nodules on the shins, fever and arthritis . [2] It is more common in women than men, and is more frequent in those of Scandinavian, Irish, African and Puerto Rican heritage. ... Prognosis [ edit ] Löfgren syndrome is associated with a good prognosis, with > 90% of patients experiencing disease resolution within 2 years. ... "Sex-specific manifestations of Löfgren's syndrome" . Am. J. Respir. Crit. Care Med . 175 (1): 40–44. doi : 10.1164/rccm.200608-1197OC . ... PMID 17023727 . ^ Grunewald J, Eklund A (February 2009). "Löfgren's syndrome: human leukocyte antigen strongly influences the disease course". ... External links [ edit ] Classification D DiseasesDB : 11797 v t e Sarcoidosis Skin Lupus pernio Neurosarcoidosis Löfgren syndrome Heerfordt's syndrome
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3p Deletion Syndrome
Medlineplus
3p deletion syndrome is a condition that results from a chromosomal change in which a small piece of chromosome 3 is deleted in each cell. ... Frequency 3p deletion syndrome is likely a rare disorder; at least 30 cases have been described in the scientific literature. Causes 3p deletion syndrome is caused by deletion of the end of the small (p) arm of chromosome 3. ... The signs and symptoms related to 3p deletion syndrome result from the loss of genes in the 3p region. ... Learn more about the chromosome associated with 3p deletion syndrome chromosome 3 Inheritance Pattern Most cases of 3p deletion syndrome are not inherited.
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Doors Syndrome
Orphanet
Etiology DOORS (deafness-onychodystrophy-osteodystrophy-intellectual disability syndrome) syndrome is caused by mutations in the TBC1D24 gene (16p13.3) encoding a protein involved in the regulation of membrane trafficking. It seems likely that DOORS syndrome will prove to be a genetically heterogeneous disease and other causal genes will be identified in the future. ... Molecular genetic testing identifying a TBC1D24 mutation may confirm the diagnosis but absence of the mutation does not mean a diagnosis of DOORS syndrome is incorrect. Differential diagnosis Differential diagnoses include Coffin-Siris syndrome, intellectual disability-sparse hair-brachydactyly syndrome, Zimmermann-Laband syndrome, fetal alcohol syndrome and Temple-Baraitser syndrome, autosomal dominant deafness-onychodystrophy syndrome, and disorders of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation. Antenatal diagnosis Prenatal diagnosis is possible in families with a known disease-causing mutation. Genetic counseling DOORS syndrome is inherited autosomal recessively. ... The number of known adults with DOORS syndrome is at present too small to predict the long term prognosis.
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Peters Plus Syndrome
Medlineplus
The eye problems in Peters plus syndrome occur in an area at the front part of the eye known as the anterior segment. ... The severity of corneal clouding and other eye problems can vary between individuals with Peters plus syndrome, even among members of the same family. Many people with Peters plus syndrome experience vision loss that worsens over time. All people with Peters plus syndrome have short stature, which is evident before birth. ... Frequency Peters plus syndrome is a rare disorder; its incidence is unknown.
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Purple Urine Bag Syndrome
Wikipedia
Purple urine bag syndrome Purple urine bag syndrome usually presents as urine with a purplish discoloration accumulating in a catheterized person's collection bag. Purple urine bag syndrome ( PUBS ) is a medical syndrome where purple discoloration of urine occurs in people with urinary catheters and co-existent urinary tract infection . ... "Purple urine bag syndrome" . Canadian Medical Association Journal . 179 (5): 491. doi : 10.1503/cmaj.071604 . ... (December 2008). "Purple urine bag syndrome in nursing homes: ten elderly case reports and a literature review" . ... "Case analysis of purple urine-bag syndrome at a long-term care service in a community hospital" .
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Mungan Syndrome
Wikipedia
Mungan syndrome Specialty Gastroenterology Mungan syndrome [1] is first described in 2003 by Mungan Z. et al. [2] as an autosomal recessively inherited disorder in a Turkish family. ... Family members of this syndrome had also mega duodenum , Barrett's esophagus , different cardiac abnormalities and some other organ involvement. In 2007, [3] Deglincerti A et al. studied genetic abnormalities in this family members and identified a new syndromic locus on chromosome 8q23-q24. References [ edit ] ^ "Mungan Syndrome" . National Center for Biotechnology Information. ... November 2003. ^ "A novel locus for syndromic chronic idiopathic intestinal pseudo-obstruction maps to chromosome 8q23–q24" .