ATR-16 syndrome Other names Alpha thalassemia-intellectual disability syndrome, deletion type, Alpha thalassemia-mental retardation syndrome Chromosome 16 is linked to this condition ATR-16 syndrome , also called Alpha-Thalassemia-Intellectual disability syndrome is a rare disease characterized by monosomy on part of chromosome 16 . ... It must be distinguished from ATR-X syndrome, a very similar disease caused by a mutation on the X chromosome , and cases of alpha-thalassemia that co-occur with intellectual disabilities with no underlying genetic relationship. [1] [2] [3] Treatment [ edit ] Treatments for ATR-16 syndrome depend on the symptoms experienced by any individual. ... Scientists have described more than 20 cases as of 2013. [1] [2] References [ edit ] ^ a b c d e "ATR-16 Syndrome – NORD (National Organization for Rare Disorders)" . ... Retrieved 2015-10-25 . ^ a b c d e "Orphanet: Alpha thalassemia intellectual disability syndrome linked to chromosome 16 ATR 16 syndrome" . www.orpha.net . Retrieved 2015-10-28 . ^ a b "OMIM Entry – # 141750 – ALPHA-THALASSEMIA/MENTAL RETARDATION SYNDROME, CHROMOSOME 16-RELATED" . omim.org .
A rare developmental defect during embryogenesis, a contiguous gene deletion syndrome, is a form of alpha-thalassemia characterized by microcytosis, hypochromia, normal hemoglobin (Hb) level or mild anemia, associated with developmental abnormalities. Epidemiology Alpha-thalassemia-intellectual disability syndrome linked to chromosome 16 (ATR-16) prevalence is unknown. ... Differential diagnosis Differential diagnosis includes Alpha thalassemia - X-linked intellectual deficit syndrome, and the co-occurrence of common alpha-thalassemia trait and an intellectual deficiency of another cause.
Not to be confused with Fanconi anemia . Fanconi syndrome Specialty Nephrology , endocrinology Fanconi syndrome or Fanconi's syndrome ( English: / f ɑː n ˈ k oʊ n i / , / f æ n -/ ) is a syndrome of inadequate reabsorption in the proximal renal tubules [1] of the kidney . ... Different forms of Fanconi syndrome can affect different functions of the proximal tubule, and result in different complications . ... See also [ edit ] Familial renal disease in animals for Fanconi syndrome in Basenjis References [ edit ] ^ " Fanconi syndrome " at Dorland's Medical Dictionary ^ Fanconi Syndrome at Merck Manual Home Health Handbook ^ Magen D, Berger L, Coady MJ, Ilivitzki A, Militianu D, Tieder M, Selig S, Lapointe JY, Zelikovic I, Skorecki K (March 2010). ... "The HNF4A R76W mutation causes atypical dominant Fanconi syndrome in addition to a β cell phenotype" . ... "Fanconi's syndrome and distal (type 1) renal tubular acidosis in a patient with primary Sjögren's syndrome with monoclonal gammopathy of undetermined significance".
Please help to improve this article by introducing more precise citations. ( October 2017 ) ( Learn how and when to remove this template message ) Not to be confused with Richner-Hanhart syndrome . Hanhart syndrome Other names Hypoglossia-hypodactyly syndrome Causes Unknown [1] Hanhart syndrome (also known as Aglossia adactylia; Hypoglossia-hypodactylia syndrome; Peromelia with micrognathia) is a congenital disorder that causes an undeveloped tongue and malformed extremities and fingers. ... Noted for playing zombies. [3] [4] References [ edit ] ^ "Hanhart Syndrome" . NORD (National Organization for Rare Disorders) . ... M (1976). "Studies of malformation syndromes of man XXXXI B: Nosologic studies in the Hanhart and the Möbius syndrome". ... Bersu, Edward T; Pettersen, James C; Charboneau, William J; Opitz, John M (1976). "Studies of malformation syndromes of man XXXXIA: Anatomical studies in the Hanhart syndrome ? ... Goyal, M; Singh, A; Singh, P; Kapoor, S (2014). "Hypoglossia-hypodactyly syndrome with short stature - a case report" .
Clinical description It was first described in 1932, but in 1950 Hanhart described three cases of aglossia with associated limb defects and gave his name to the syndrome. Several similar cases have since been reported allowing a better definition of the associated malformations. ... Etiology About 30 cases of Hanhart syndrome were reported in the literature between 1932 and 1991, and a few cases of intra-familial recurrence led to a hypothesis of mutation of an autosomal recessive gene being responsible for this condition. ... The features described in patients diagnosed with aglossia adactylia after CVS are generally of lower severity than those described in patients with the Hanhart syndrome, but these two conditions probably belong to the same spectrum of anomalies. ... Differential diagnosis Some of the listed symptoms may be confounded with those of Nager syndrome or acro-facial dysostosis. Both Nager syndrome and acro-facial dysostosis differ from aglossia adactylia in the kind of facial dysmorphia (in Nager syndrome the ears are malformed and malar hypoplasia is associated with downslanting palpebral fissures) and in the type of limb anomalies (preaxial defects are more common in Nager syndrome whereas transverse defects are more common in aglossia-adactyly).
Based on this process, Yao syndrome is classified as an autoinflammatory disease. ... Other potential signs and symptoms of Yao syndrome include mouth sores, chest pain, and enlargement of various glands. Yao syndrome is usually diagnosed in adulthood. ... Learn more about the gene associated with Yao syndrome NOD2 Inheritance Pattern Because Yao syndrome appears to be a complex disease without a single genetic cause, it does not have a straightforward pattern of inheritance. ... Many people who have one or more of the NOD2 gene variants associated with Yao syndrome never develop the disease.
Yao et al. (2013) stated that this disorder differs markedly from Blau syndrome (186580), with the dermatitis being spongiotic rather than granulomatous, and without the chronic joint deformity (camptodactyly) and uveitis seen in Blau syndrome. In addition, Blau syndrome lacks GI manifestations, whereas approximately 60% of patients studied by Yao et al. (2013) had GI symptoms. Yao et al. (2015) reported that 54 of 143 patients with a clinical phenotype suggestive of Yao syndrome had variants in the NOD2 gene. ... The molecular criterion consisted of the presence of NOD2 rare variants; and exclusion criteria included high titer antinuclear antibodies, inflammatory bowel disease, Blau syndrome, adult sarcoidosis, primary Sjogren syndrome, and monogenic autoinflammatory diseases. ... Yao et al. (2015) genotyped 143 patients with symptoms suggestive of Yao syndrome for NOD2 variants and identified 54 patients who fulfilled criteria for Yao syndrome, including the presence of NOD2 variants.
In this study, canakinumab was effective in patients with YAOS, and thus clinical trial of canakinumab may be warranted as a therapeutic option for this disease. [6] Inheritance [ edit ] Yao Syndrome inheritance is classified as Multifactorial Inheritance . [7] References [ edit ] ^ "Yao syndrome" . www.uniprot.org . ... Retrieved 2019-12-15 . ^ Reference, Genetics Home. "Yao syndrome" . Genetics Home Reference . National Center for Biotechnology Information , U.S. ... Retrieved 2019-12-15 . ^ This article incorporates public domain material from the United States National Library of Medicine document: "Yao Syndrome" . (Genetics Home Reference) ^ "OMIM Entry - # 617321 - YAO SYNDROME; YAOS" . www.omim.org . ... PMID 31541750 . ^ "OMIM Clinical Synopsis - #617321 - YAO SYNDROME; YAOS" . omim.org . Retrieved 2019-11-18 . External links [ edit ] Classification D OMIM : 617321 MedGen-Yao Syndrome Genetics Home Reference-Yao Syndrome
For the type of dementia also known as Worster-Drought syndrome, see Familial British dementia . Worster-Drought syndrome is a form of congenital suprabulbar paresis that occurs in some children with cerebral palsy . It is caused by inadequate development of the corticobulbar tracts and causes problems with the mouth and tongue including impaired swallowing. [1] A similar syndrome in adults is called anterior opercular syndrome . [1] [2] A 1986 study of a family in which multiple members had Worster-Drought Syndrome suggested it might be hereditary. [3] A 2000 review of cases classified Worster-Drought Syndrome as a form of cerebral palsy, caused by early damage to the brain, but identified no obvious causes during gestation or birth and found some families with a history of the condition. [4] The syndrome was named after Cecil Charles Worster-Drought , the doctor who discovered it in 1956. ... "Foix-Chavany-Marie (anterior operculum) syndrome in childhood: a reappraisal of Worster-Drought syndrome". ... PMID 3955865 . ^ Clark M, Carr L, Reilly S, Neville BG (October 2000). "Worster-Drought syndrome, a mild tetraplegic perisylvian cerebral palsy.
Clinical Features Called the Worster-Drought (1974) syndrome because of the review of 200 cases by that physician, congenital suprabulbar paresis is characterized by selective weakness and impairment of movement of the orbicularis oris muscle, tongue and soft palate leading to dysarthria and troublesome drooling. ... Molecular Genetics Associations Pending Confirmation For discussion of a possible association between Worster-Drought syndrome and variation in the SLC9A1 gene, see 107310.
Worster-Drought syndrome (WDS) is a form of cerebral palsy characterized by congenital pseudobulbar (suprabulbar) paresis manifesting as selective weakness of the lips, tongue and soft palate, dysphagia, dysphonia, drooling and jaw jerking. ... Differential diagnosis The main differential diagnosis is the bilateral perisylvian polymicrogyria (see this term) which manifests with severe epilepsy Clinical overlap of WDS with congenital bilateral perisylvian polymicrogyria and Foix-Chavany-Marie syndrome (see these terms) has been noted.
Micro syndrome Other names Warburg–Sjo–Fledelius syndrome Warburg Micro syndrome ( WARBM ), also known as Micro syndrome , is a rare autosomal recessive genetic disorder characterized by microcephaly , microcornea , congenital cataract, intellectual or developmental disability, optic atrophy, and hypogenitalism . [1] Contents 1 Genetics 2 Diagnosis 3 Treatment 4 References 5 External links Genetics [ edit ] The rare cases that have been examined are often within families, or the people that have cases of Warburg Micro syndrome have a mutation in their genes. [ citation needed ] It can be associated with RAB3GAP . [2] Diagnosis [ edit ] Warburg Micro syndrome can be identified in people several ways, one of the most common is ocular problems or other physical traits that don't appear natural. It is especially easy to identify micro syndrome in infants and in younger children. ... Many individuals with Warburg Micro syndrome need permanent assistance from their disorders and inabilities to move and support themselves. ... "New RAB3GAP1 mutations in patients with Warburg Micro Syndrome from different ethnic backgrounds and a possible founder effect in the Danish" . ... PMC 2987448 . PMID 20512159 . ^ "Micro Syndrome." http://www.orpha.net 13 Mar. 2008 < http://www.orpha.net/data/patho/GB/uk-MicroSyndrome.pdf >.
A number sign (#) is used with this entry because of evidence that Warburg Micro syndrome-4 (WARBM4) is caused by homozygous mutation in the TBC1D20 gene (611663) on chromosome 20p13. Description Warburg Micro syndrome is a rare autosomal recessive syndrome characterized by microcephaly, microphthalmia, microcornea, congenital cataracts, optic atrophy, cortical dysplasia, in particular corpus callosum hypoplasia, severe mental retardation, spastic diplegia, and hypogonadism (summary by Morris-Rosendahl et al., 2010). For a discussion of genetic heterogeneity of Warburg Micro syndrome, see 600118. Clinical Features Liegel et al. (2013) studied 7 patients from 5 families with Warburg Micro syndrome due to mutations in the TBC1D20 gene who showed the same range of clinical features observed in WARBM patients with mutations in the RAB3GAP1 (602536), RAB3GAP2 (609275), and RAB18 (602207) genes. ... The cohort included 59 cases of 'typical' WARBM, 5 cases diagnosed with Martsolf syndrome (212720), and 13 atypical cases that had been described by Handley et al. (2013).
A number sign (#) is used with this entry because of evidence that Warburg Micro syndrome-2 (WARBM2) is caused by homozygous mutation in the RAB3GAP2 gene (609275) on chromosome 1q41. Martsolf syndrome (212720), a clinically overlapping but milder disorder, is also caused by mutation in the RAB3GAP2 gene. For a general phenotypic description and a discussion of genetic heterogeneity of Warburg Micro syndrome, see 600118. Clinical Features Borck et al. (2011) reported a girl from a consanguineous Turkish family with Warburg Micro syndrome who presented with congenital cataracts, microphthalmia, absent visual evoked potentials, microcephaly, polymicrogyria, hypoplasia of the corpus callosum, and severe developmental delay. Molecular Genetics In a girl from a consanguineous Turkish family with Warburg Micro syndrome, Borck et al. (2011) identified homozygosity for a small in-frame deletion in the RAB3GAP2 gene (609275.0002). ... Analysis of RAB3GAP2 in 10 additional unrelated children with suspected Warburg Micro syndrome who were negative for mutation in the RAB3GAP1 (602536) gene revealed no further mutations.
A number sign (#) is used with this entry because of evidence that Warburg Micro syndrome-3 (WARBM3) is caused by homozygous or compound heterozygous mutation in the RAB18 gene (602207) on chromosome 10p12. Description Warburg Micro syndrome is a rare autosomal recessive syndrome characterized by microcephaly, microphthalmia, microcornea, congenital cataracts, optic atrophy, cortical dysplasia, in particular corpus callosum hypoplasia, severe mental retardation, spastic diplegia, and hypogonadism (summary by Morris-Rosendahl et al., 2010). ... Mapping Bem et al. (2011) performed a genomewide linkage scan in 5 large consanguineous families segregating Warburg Micro syndrome and genotyped 11 affected children and 4 unaffected sibs. ... Direct sequencing for RAB18 mutations in 58 additional families segregating Warburg Micro syndrome detected compound heterozygous mutations (602207.0003-602207.0004) in the affected sibs previously described by Graham et al. (2004). ... In a 4-year-old Egyptian girl with 'classic' Warburg Micro syndrome, Handley et al. (2013) identified homozygosity for a missense mutation in the RAB18 gene (T95R; 602207.0005).
Genetic Heterogeneity of Warburg Micro Syndrome Warburg Micro syndrome-2 (WARBM2; 614225) is caused by mutation in the RAB3GAP2 gene (609275) on chromosome 1q41. ... Clinical Features Warburg et al. (1993) used the designation Micro syndrome for an autosomal recessive syndrome comprising microcephaly, microcornea, congenital cataract, mental retardation, optic atrophy, and hypogenitalism. ... In the differential diagnosis, Warburg et al. (1993) considered COFS syndrome (214150), CAMAK/CAMFAK syndromes (212540), Martsolf syndrome (212720), lethal Rutledge syndrome (270400), and lethal Neu-Laxova syndrome (256520). ... Facial features were consistent with those originally described in the Micro syndrome in 3 patients; the remainder of the patients had facies similar to those described in Martsolf syndrome. ... Diagnosis Graham et al. (2004) pointed out that a prenatal viral infection should be ruled out before considering mendelian origins for Micro syndrome. Nucleotide excision repair (NER) studies in cultured fibroblasts can be used to distinguish patients with Micro syndrome from those with COFS syndrome or Cockayne syndrome (see 216400), because the latter demonstrate hypersensitivity to ultraviolet radiation, whereas patients with Micro syndrome have normal results.
Micro syndrome is an autosomal recessive disorder caracterised by ocular and neurodevelopmental defects and by microgenitalia. ... Epidemiology Since its initial description, 26 cases of Micro syndrome have been reported in the literature. ... Diagnostic methods Ocular findings are the most reliable diagnostic signs of Micro syndrome, especially during infancy. Pathognomonic ophthalmologic findings include microphthalmia, microcornea, cataract, atonic pupils, mild optic atrophy, and severe cortical vision impairment. Differential diagnosis Micro syndrome should be considered in any infant with congenital cataract. Management and treatment There is no specific treatment for Micro syndrome and the management is symptomatic.
Cogan syndrome is a rare autoimmune disease that affects the eyes and inner ears. Symptoms of the syndrome include irritation and pain in the eyes, decreased vision, hearing loss, and vertigo . Other symptoms may include joint or muscle pain or inflammation of the blood vessels. The exact cause of Cogan syndrome is not well-understood. It is thought that the syndrome is caused by an autoimmune response that causes the immune system to attack the tissues of the eyes and ears. Cogan syndrome is not known to run in families. Diagnosis of Cogan syndrome is based on observing symptoms associated with the syndrome and ruling out other possible causes of the symptoms.
A rare inflammatory/autoimmune disorder of unknown origin characterized by interstitial keratitis (IK) and audiovestibular dysfunctions. Epidemiology Cogan syndrome (CS) prevalence is unknown. To date, approximately 300 cases have been reported. ... Clinical description CS mainly affects young adults, with a median age at onset between 20 and 30 years, and occasionally affects children. The syndrome shows a large spectrum of clinical features.
Cogan syndrome Specialty Rheumatology Cogan syndrome (also Cogan's syndrome ) is a rare disorder characterized by recurrent inflammation of the front of the eye (the cornea ) and often fever, fatigue, and weight loss, episodes of vertigo (dizziness), tinnitus (ringing in the ears) and hearing loss. ... Cogan syndrome can lead to vision difficulty, hearing loss and dizziness. ... Retrieved 2 December 2020 . ^ "Cogan's Syndrome – Treatment" . Archived from the original on 2013-01-22 . ... "Syndrome of Nonsyphilitic Interstitial Keratitis and Vestibuloauditory Symptoms". ... "Neurologic manifestations of Cogan syndrome". Neurology . 28 (3): 278–81. doi : 10.1212/wnl.28.3.278 .
Superior mesenteric artery syndrome Other names Wilkie syndrome Abdominal and pelvic computed tomography scan showing duodenal compression (black arrow) by the superior mesenteric artery (red arrow) and the abdominal aorta (blue arrow). ... Play media Ultrasound showing SMA syndrome [16] Ultrasound showing SMA syndrome [16] A diagram of a healthy mesenteric angle. ... "Late superior mesenteric artery syndrome in paraplegia: case report and review" . ... J. (2008). "Patient with both wilkie syndrome and nutcracker syndrome". Vascular Medicine . 13 (3): 247–250. doi : 10.1177/1358863X08092272 . ... "The superior mesenteric artery syndrome. The disease that isn't, or is it?".
Superior mesenteric artery syndrome (SMAS) is a digestive condition that occurs when the duodenum (the first part of the small intestine) is compressed between two arteries (the aorta and the superior mesenteric artery).
Not to be confused with Brown-Vialetto-Van Laere syndrome , Down's syndrome , or Brown-Séquard syndrome . Brown syndrome Specialty Ophthalmology Brown's syndrome is a rare form of strabismus characterized by limited elevation of the affected eye. ... Because this syndrome can be acquired or occur at random and has spontaneous resolution, Brown hypothesized one major truth for this disorder — that the short tendon sheath was due to a complete separation, congenital paresis, of the ipsilateral (on the same side) inferior oblique muscle and secondary to a permanent shortening. [ citation needed ] After further research, he redefined the sheath syndrome into the following divisions: true sheath syndrome , which categorized only the cases that had a congenital short anterior sheath of the superior oblique tendon, and simulated sheath syndrome , which characterized all cases in which the clinical features of a sheath syndrome caused by something different other than a congenital short anterior sheath of the tendon. The clinical features of the two categories are correct but true sheath syndrome is always congenital. However, in 1970 it was discovered that a tight sheath tendon was not the cause of Brown's Syndrome. ... Orbital floor fractures may trap the orbital tissue in such a way as to simulate Brown's syndrome. Intermittent forms of vertical retraction syndrome have been associated with click, which occurs as the restriction is released (superior oblique click syndrome).
Description Brown syndrome, originally described by Brown (1950), is characterized by the inability to elevate the adducted eye actively or passively. ... She had been diagnosed with Brown syndrome at 5 years of age, and chin elevation was also seen in multiple photographs dating back to childhood. ... Iannaccone et al. (2002) studied 3 Italian sibs with late-onset unilateral Brown syndrome that developed at 12 to 13 years of age. ... Volk et al. (2010) studied 13 unrelated patients diagnosed with Brown syndrome, including 10 unilateral and 3 bilateral cases. Ten of the probands were reported to have affected relatives. Pathogenesis Brown syndrome was orginally thought to result from anomalies of the superior oblique tendon sheath and was referred to as the 'superior oblique tendon sheath syndrome (SOTSS).'
In Morquio syndrome, the specific GAG which builds up in the body is called keratan sulfate . ... Morquio syndrome and other MPS disorders may also present with corneal clouding Patients with Morquio syndrome appear healthy at birth. ... Morquio observed the disorder in four siblings in a family of Swedish descent and reported his observations in French. [ citation needed ] See also [ edit ] Hurler syndrome ( MPS I ) Hunter syndrome (MPS II) Sanfilippo syndrome (MPS III) Dwarfism References [ edit ] ^ a b "MPS IV (Morquio syndrome)" . ... "Mortality in Patients with Morquio Syndrome A" . Journal of Inherited Metabolic Disease . ... External links [ edit ] Classification D ICD - 10 : E76.2 ICD - 9-CM : 277.5 OMIM : 253000 253010 MeSH : D009085 DiseasesDB : 30807 External resources MedlinePlus : 001206 eMedicine : ped/1477 Patient UK : Morquio syndrome Orphanet : 582 v t e Lysosomal storage diseases : Inborn errors of carbohydrate metabolism ( Mucopolysaccharidoses ) Catabolism MPS I Hurler Syndrome , Hurler-Scheie Syndrome , Scheie Syndrome MPS II: Hunter Syndrome MPS III: Sanfilippo Syndrome MPS IV: Morquio Syndrome MPS VI: Maroteaux-Lamy Syndrome MPS VII: Sly Syndrome MPS IX: Hyaluronidase deficiency
Because descriptions of the natural history of MPS IV published in the past may not have distinguished between MPS IVA (Morquio syndrome type A; accounting for >95% of affected individuals) and MPS IVB (Morquio syndrome type B; <5% of affected individuals), the following information is relevant to both MPS IVA and MPS IVB. ... Mucopolysaccharidosis type IVA (MPS IVA), also known as Morquio syndrome type A, was initially characterized by Morquio [1929] and Brailsford [1929]. MPS IVA and MPS IVB are known as Morquio syndrome type A and type B, respectively. ... Theroux et al [2012], who published the largest cohort of children with Morquio syndrome undergoing anesthesia, made specific recommendations for care during anesthesia.
A number sign (#) is used with this entry because of evidence that the marfanoid-progeroid-lipodystrophy syndrome (MFLS) is caused by heterozygous mutation occurring in or affecting exon 64 of the FBN1 gene (134797) on chromosome 15q21. ... Takenouchi et al. (2013) noted phenotypic overlap with Marfan syndrome (154700) and Shprintzen-Goldberg craniosynostosis syndrome (182212). ... Graul-Neumann et al. (2010) noted a 'striking resemblance' between this patient and the 2 girls with neonatal progeroid syndrome (264090) described by O'Neill et al. (2007). ... In a 10-year-old Japanese girl with Marfan lipodystrophy syndrome, Takenouchi et al. (2013) identified heterozygosity for an 8-bp deletion in exon 64 of the FBN1 gene (134797.0069). ... A distinctive phenotype consisting of partial manifestions of Marfan syndrome, a progeroid facial appearance, and clinical features of lipodystrophy were present in all individuals.
Progeroid and marfanoid aspect-lipodystrophy syndrome is a rare systemic disease characterized by a neonatal progeroid appearance (not associated with other manifestations of premature aging) associated with facial dysmorphism (e.g. macrocephaly or arrested hydrocephaly, proptosis, downslanting palpebral fissures, retrognathia), generalized, extreme, congenital lack of subcutaneous fat tissue (except in the breast and iliac region) and incomplete signs of Marfan syndrome (mainly severe myopia, joint hyperextensibility and arachnodactyly).
GAPO syndrome is caused by a deletion in both copies of the ANTXR1 gene, which encodes Anthrax Toxin Receptor 1. ... In this report, we describe 2 homozygous siblings diagnosed with GAPO syndrome carrying a new missense mutation. ... Management [ edit ] There is currently no cure for GAPO syndrome, but some options are available to reduce the symptoms. ... Keywords: GAPO syndrome, trabeculectomy, mitomycin C, hypotony maculopathy History [ edit ] The first incidence of GAPO syndrome was reported by Anderson and Pindborg in 1947. ... Retrieved 15 October 2015 . ^ Bacon, W; Hall, RK; Roset, JP; Boukari, A; Tenenbaum, H; Walter, B (1999). "GAPO syndrome: a new case of this rare syndrome and a review of the relative importance of different phenotypic features in diagnosis".
A rare, genetic, multiple congenital anomalies syndrome characterized by growth retardation, alopecia, pseudoanodontia and ocular manifestations. Epidemiology Approximately 60 patients with GAPO syndrome have been reported in literature since the first description in 1947. ... Etiology Homozygous nonsense or splicing mutations in the ANTXR1 gene (2p13.3), encoding anthrax toxin receptor 1, also known as tumor endothelial marker 8 (TEM8) causes GAPO Syndrome. Diagnostic methods Diagnosis mostly relies on physical and ophtamologic examination.
The authors pointed out that this is a progeroid syndrome. Wajntal et al. (1990) stated that 12 patients with the GAPO syndrome, distributed in 7 families, had been reported. ... Both had the characteristic features of the syndrome except that optic atrophy was absent; instead they had glaucoma and keratoconus. ... Sayli and Gul (1993) described GAPO syndrome in a brother and sister and in a first cousin. ... Baxova et al. (1997) described 2 unrelated patients with GAPO syndrome, a 15-month-old Czech boy and a 16-month-old Polish girl. ... Goloni-Bertollo et al. (2008) described 2 sisters and a brother with GAPO syndrome, the offspring of first-degree cousin parents.
Rare congenital connective tissue disease Winchester syndrome or Torg-Winchester syndrome Other names Torg-Winchester syndrome [1] Matrix Metalloproteinase 2 Winchester syndrome is a rare congenital connective tissue disease described in 1969, [2] of which the main characteristics are short stature , marked contractures of joints, opacities in the cornea , coarse facial features, dissolution of the carpal and tarsal bones (in the hands and feet, respectively), and osteoporosis . ... It appears that Winchester syndrome is more common in women than men. [4] Winchester syndrome is very rare. ... This has led to the belief that there are many similar diseases within this family of mutations. [10] As of 2007, it was found that these mutations are also found in Torg and Nodulosis-arthropathy-osteolysis syndrome (NAO) . This means that Torg, NAO, and Winchester syndrome are allelic disorders. [9] In 2014, a new case of Winchester syndrome was reported. [11] According to a recently published article, it was discovered that multicentric osteolysis, nodulosis, and arthropathy (MONA) and Winchester syndrome are different diseases. Mutations in MMPS and MT1-MMP result in similar but distinctly different "vanishing bone" syndromes. [6] See also [ edit ] Multicentric carpotarsal osteolysis syndrome References [ edit ] ^ RESERVED, INSERM US14-- ALL RIGHTS. ... PMID 4238825 . ^ a b c Reference, Genetics Home. "Winchester syndrome" . Genetics Home Reference . Retrieved 2017-12-12 . ^ a b c d "Winchester Syndrome - NORD (National Organization for Rare Disorders)" .
A number sign (#) is used with this entry because of evidence that Winchester syndrome (WNCHRS) is caused by homozygous mutation in the MMP14 gene (600754) on chromosome 14q11. ... Together with reported fibroblast studies, the authors concluded that Winchester syndrome was a mucopolysaccharide storage disease. ... On the basis of electron microscopic studies, they concluded that Winchester syndrome was a nonlysosomal connective tissue disease. ... Winter (1989) provided a review of Winchester syndrome. Molecular Genetics Evans et al. (2012) sequenced the MMP2 gene (120360) in 1 of the probands reported by Winchester et al. (1969) and found no mutations. ... History In 2 sisters originally reported by Lambert et al. (1989) as having Winchester syndrome, Rouzier et al. (2006) identified a homozygous mutation in the MMP2 gene (120360.0004), and in an Italian patient diagnosed with Winchester syndrome, Zankl et al. (2005) identified a different homozygous mutation in the MMP2 gene (120360.0003).
Winchester syndrome is a rare inherited disease characterized by a loss of bone tissue (osteolysis), particularly in the hands and feet. Winchester syndrome used to be considered part of a related condition now called multicentric osteolysis, nodulosis, and arthropathy (MONA). However, because Winchester syndrome and MONA are caused by mutations in different genes, they are now thought to be separate disorders. In most cases of Winchester syndrome, bone loss begins in the hands and feet, causing pain and limiting movement. ... It has been reported in only a few individuals worldwide. Causes Winchester syndrome is caused by mutations in the MMP14 gene (also known as MT1-MMP ).
In acute compartment syndrome, the pain will not be relieved with rest. ... According to one study the rate of fasciotomy for acute compartment syndrome varied from 2% to 24%. [16] This is due to uncertainty and differences in labeling a condition as acute compartment syndrome. ... PMID 25067973 . ^ a b "Compartment Syndrome – National Library of Medicine" . ... "Chronic exertional compartment syndrome: diagnosis and management" (PDF) . ... Diagnosis and treatment of compartment syndromes and other pain syndromes of the leg".
Please introduce links to this page from related articles ; try the Find link tool for suggestions. ( February 2018 ) Birk-Barel syndrome Other names Intellectual disability-hypotonia-facial dysmorphism syndrome, KCNK9 Imprinting Syndrome Birk-Barel syndrome is a rare genetic disorder associated with the KCNK9 gene. Signs and symptoms include mental retardation , hypotonia , hyperactivity , and syndromic facies . [1] Due to imprinting, mutations in the maternal copy of KCNK9 cause the condition, while mutations in the paternal copy do not. As such, this condition can only be inherited from the mother. [2] The Inhibition of histone deacetylation rescues phenotype in a mouse model of Birk-Barel intellectual disability syndrome. [3] References [ edit ] ^ "Birk-Barel syndrome - Genetic and Rare Diseases Information Center (GARD) – an NCATS Program" . rarediseases.info.nih.gov . ^ "KCNK9 Imprinting Syndrome" . ^ "The Inhibition of histone deacetylation rescues phenotype in a mouse model of Birk-Barel intellectual disability syndrome" .
The diagnosis of the KCNK9 imprinting syndrome is established in a proband with suggestive clinical findings and detection of the heterozygous KCNK9 pathogenic variant p.Gly236Arg on the maternal allele. ... To date, no individual with KCNK9 imprinting syndrome has been known to reproduce. Once the KCNK9 pathogenic variant has been identified in an affected family member, prenatal testing for a pregnancy at increased risk for KCNK9 imprinting syndrome (i.e., one in which the mother is heterozygous for a KCNK9 pathogenic variant) and preimplantation genetic testing are possible. Diagnosis Consensus clinical diagnostic criteria for the KCNK9 imprinting syndrome have not been established. Suggestive Findings KCNK9 imprinting syndrome should be suspected in individuals with normal brain imaging and the following clinical findings: Congenital central hypotonia and persistent generalized weakness Severe feeding difficulties, often requiring placement of gastrostomy tube. ... Delayed motor and speech milestones / intellectual disability are observed in all individuals with the KCNK9 imprinting syndrome. Intellectual disability is usually moderately severe with limited speech. ... Disorders to Consider in the Differential Diagnosis of KCNK9 Imprinting Syndrome View in own window Disorder Genetic Mechanism MOI Clinical Features of Differential Diagnosis Disorder Overlapping w/ KCNK9 imprinting syndrome Distinguishing from KCNK9 imprinting syndrome Congenital myotonic dystrophy type 1 >1000 CTG trinucleotide repeat expansion in DMPK 1 AD Hypotonia & severe generalized weakness at birth Intellectual disability Usually no cleft palate Prader-Willi syndrome (PWS) Abnormal parent-specific imprinting w/in the Prader-Willi critical region See footnote 2.
KCNK9 imprinting syndrome is a rare condition characterized by weak muscle tone (hypotonia) from birth. ... In addition to unusual facial features, some people with KCNK9 imprinting syndrome have a long neck, a narrow chest, and tapered fingers. Frequency KCNK9 imprinting syndrome is a rare condition. At least 19 affected individuals have been described in the medical literature. ... Impairment of neuron function likely underlies the hypotonia, intellectual disability, and developmental problems characteristic of KCNK9 imprinting syndrome. Learn more about the gene associated with KCNK9 imprinting syndrome KCNK9 Inheritance Pattern KCNK9 imprinting syndrome follows an autosomal dominant pattern of inheritance, which means one copy of the altered gene in each cell is sufficient to cause the disorder. ... In most cases of KCNK9 imprinting syndrome, an affected person inherits the mutation from his or her mother.
A number sign (#) is used with this entry because of evidence that Birk-Barel syndrome is caused by heterozygous mutation in the KCNK9 gene (605874) on chromosome 8q24. Clinical Features Barel et al. (2008) reported an Israeli-Arab kindred with an apparently maternally transmitted (imprinted with paternal silencing) syndrome of mental retardation, hypotonia, and characteristic dysmorphism. ... Graham et al. (2016) described 4 unrelated patients, aged 18 months to 3 years, with Birk-Barel syndrome. All had congenital hypotonia, developmental delay, feeding difficulties, restricted facial movements, and variable dysmorphic features, including dolichocephaly with bitemporal narrowing, short philtrum, tented upper lip, palatal abnormalities, and small mandible. ... Molecular Genetics Within the interval on 8q24 linked to a mental retardation dysmorphism syndrome, Barel et al. (2008) identified only one imprinted gene: KCNK9 (605874), which undergoes paternal silencing in humans and mice and is exclusively expressed from the maternal allele in the brain.
Intellectual disability, Birk-Barel type is a rare, genetic, syndromic intellectual disability characterized by congenital central hypotonia, developmental delay, moderate to severe intellectual disability and subtle dysmorphic features which evolve over time (dolichocephaly, myopathic facies, ptosis, short and broad philtrum, tented upper lip vermillion, palatal anomalies, mild micro- and/or retrognathia).
Cryptogenic cirrhosis is a condition that impairs liver function. People with this condition develop irreversible liver disease caused by scarring of the liver (cirrhosis), typically in mid- to late adulthood. The liver is a part of the digestive system that helps break down food, store energy, and remove waste products, including toxins. Minor damage to the liver can be repaired by the body. However, severe or long-term damage can lead to the replacement of normal liver tissue with scar tissue. In the early stages of cryptogenic cirrhosis, people often have no symptoms because the liver has enough normal tissue to function. Signs and symptoms become apparent as more of the liver is replaced by scar tissue.
In India, so-called Indian childhood cirrhosis (Sen syndrome) affects multiple sibs (Chaudhuri and Chaudhuri, 1965). ... Before the report by Lefkowitch et al. (1982), the clinical syndrome had been described only in children in India, Pakistan, Sri Lanka, and Burma (Mowat, 1979) and rarely in immigrants to Britain from India (Tanner et al., 1978). ... Hadengue et al. (1991) suggested that the pulmonary endothelial damage in this hepatopulmonary syndrome may be caused by nonmetabolized substances in the portal blood that reach the pulmonary vasculature through portal systemic shunting.
Idiopathic copper-associated cirrhosis is a rare copper-overload liver disease characterized by a rapidly progressive liver cirrhosis from the first few years of life leading to hepatic insufficiency and harboring a specific pathological aspect: pericellular fibrosis, inflammatory infiltration, hepatocyte necrosis, absence of steatosis, poor regeneration and histochemical copper staining.
Indian childhood cirrhosis is a chronic liver disease of childhood characterised by cirrhosis of the liver [1] due to deposition of copper in the liver . [2] It primarily affects children of 1–3 years of age and has a genetic predisposition. It had a very high case fatality in the past [3] but has eventually become preventable, treatable and is now rare. [4] Variants [ edit ] North American Indian childhood cirrhosis [5] References [ edit ] ^ Editorial (August 2008). "Indian childhood cirrhosis: Several dilemmas resolved" (PDF) . Indian J Med Res . 128 (2): 93–96. PMID 19001668 . ^ Tanner, MS (May 1998). "Role of copper in Indian childhood cirrhosis" . The American Journal of Clinical Nutrition . 67 (5 Suppl): 1074S–1081S. doi : 10.1093/ajcn/67.5.1074S .