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Arthrogryposis syndrome

Arthrogryposis multiplex congenita (AMC) refers to the development of multiple joint contractures affecting two or more areas of the body prior to birth. A contracture occurs when a joint becomes permanently fixed in a bent or straightened position, which can impact the function and range of motion of the joint Arthrogryposis Clinic. The Pediatric Division of the Johns Hopkins Department of Orthopaedic Surgery has a specialty arthrogryposis clinic run by Dr. Ranjit Varghese, attending pediatric orthopaedic surgeon.Varghese has had specialized training and many years of experience treating children with arthrogryposis Arthrogrypos, eller arthrogryposis multiplex congenita (AMC) är en grupp av olika sjukdomstillstånd. (DA2A), Sheldon-Hall syndrom (DA2B) och Gordon syndrom (DA3). Sahlgrenska Universitetssjukhuset har bedrivit diagnostik av barn med misstänkt arthrogrypos i Västra Götalandsregionen under de senaste 20 åren. Diagnostiken bygger på

At least 10 different forms of distal arthrogryposis have been identified including Freeman-Sheldon syndrome, Gordon syndrome, trismus-pseudocamptodactyly syndrome, multiple pterygium syndrome and Sheldon-Hall syndrome. (For more information on these disorders, choose the specific disorder name as your search term in the Rare Disease Database. Arthrogryposis may be associated with other conditions such as Spina Bifida, Trisomy 18, Amniotic Band Syndrome, and Poland's Syndrome. Fact Sheet Continues Below This free Fact Sheet is made possible by the generous support of donors like you Arthrogryposis can be associated with numerous syndromic as well as non-syndromic associations: Over 400 medical conditions and 350 known genes with considerable variability in phenotypic expression. syndromic. Pena-Shokeir syndrome; multiple pterygium syndrome; Fowler syndrome; Freeman Sheldon syndrome 3; non-syndromic/isolate

Arthrogryposis multiplex congenita Genetic and Rare

Distal arthrogryposis type 1 can be caused by mutations in at least two genes: TPM2 and MYBPC1.These genes are active (expressed) in muscle cells, where they interact with other muscle proteins to help regulate the tensing of muscle fibers (muscle contraction).It is unclear how mutations in the TPM2 and MYBPC1 genes lead to the joint abnormalities characteristic of distal arthrogryposis type 1 Arthrogryposis Multiplex Congenita (AMC) is a term used to describe over 300 conditions that cause multiple curved joints in areas of the body at birth. Multiple Pterygium Syndromes. A pterygium is a winglike structure, web or triangular membrane that forms across a body joint Arthrogryposis by definition has multiple congenital contractures. All types of arthrogryposis have decreased in utero fetal movement. Because so many things are involved in normal fetal movement, there are many causes and processes that can go awry. In this era of molecular genetics, we have tried Möbius syndrom som vanligtvis innebär dubbelsidig ansiktsförlamning kan i sällsynta fall förekomma tillsammans med amyoplasi. Det finns ett särskilt informationsmaterial om Möbius syndrom i Socialstyrelsens databas om ovanliga diagnoser. Smärta är ett vanligt symtom, särskilt efter kirurgiska ingrepp The phenotype is variable, even within the same family and cases may go undiagnosed as not all the patients present with the three cardinal features. Renal tubular dysfunction ranges from isolated renal tubular acidosis to complete Fanconi syndrome (polyuria, aminoaciduria, glycosuria, phosphaturia and bicarbonate wasting). Hepatic anomalies include variable combinations of cholestasis.

Arthrogryposis Johns Hopkins Medicin

Artrogrypos hos barn - Sahlgrenska Universitetssjukhuse

  1. ant, autosomal recessive, X-linked), chromosomal abnormalities and various syndromes
  2. Arthrogryposis - the Greek word for hooked or curved joints - We follow Max and Wendy and others with this rare condition. Follow Us on Facebook: https://www..
  3. A number sign (#) is used with this entry because of evidence that distal arthrogryposis type 2A (DA2A) is caused by heterozygous mutation in the MYH3 gene on chromosome 17p13.Mutations in this gene can also cause distal arthrogryposis type 2B (DA2B; 601680), also known as Sheldon-Hall syndrome. Descriptio
  4. There are several sub-types of distal arthrogryposis, distinguished by their associated physical characteristics. Type 1 distal arthrogryposis typically involves overlapping fingers, clenched hands, finger contractures and clubfeet. Freeman Sheldon and Sheldon Hall syndromes are the most common types of distal arthrogryposis
  5. An arthrogryposis syndrome described in two siblings to date with the association of multiple congenital joint contractures (of the large joints, fingers and toes) and hyperkeratosis (i.e. thick, scaling and fissured skin) and death occurring in early infancy. There have been no further reports in the literature since 1993

The trismus-pseudocamptodactyly syndrome is a distal arthrogryposis characterized by an inability to open the mouth fully (trismus) and pseudocamptodactyly in which wrist dorsiflexion, but not volar flexion, produces involuntary flexion contracture of distal and proximal interphalangeal joints Arthrogryposis is detected at birth or in utero using ultrasound. As many as 150 syndromes have similar features with arthrogryposis. The majority of individuals thrive with an average or above average intellect. The life span of affected people depends on the severity of the syndrome and associated malformations, but is often normal. Prognosi Arthrogryposis multiplex congenita syndrome, characterized by multiple congenital joint contractures, is a manifestation of a neurogenic or myopathic disorder of unknown etiology Arthrogryposis, renal dysfunction, and cholestasis (ARC) syndrome is a severe autosomal recessive multisystem disorder. Main characteristic features of ARC include severe failure to thrive, neonatal cholestasis, renal tubular acidosis, ichtyosis, arthrogryposis, and/or platelet dysfunction

People with the more severe forms of the syndrome have mouths with particularly limited movement. Even if the person's face is not as affected, they may still have difficulties with smiling, as well as postnatal deficiency. Distal Arthrogryposis Type II B is an autosomal dominant and common form of arthrogryposis Pterygium syndromes. Pterygium syndrome is a congenital condition where webbing of the skin occurs around the joints causing a lack of muscle movement which then causes muscle weakness and joint contractures. Escobar syndrome and Lethal multiple pterygium syndrome are a few pterygium syndromes that are connected to AMC

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Arthrogryposis Multiplex Congenita - NORD (National

Arthrogryposis is a disorder that has a characteristic of having multiple contractures in the joint area. Some experts would describe it as a neuro musculoskeletal kind of disorder. It is a non-progressive congenital kind of disorder. It is otherwise known as the Arthrogryposis Multiplex Congenita On the basis of the first AUE, FADS was suspected in 13 of 66, arthrogryposis multiplex congenita (AMC) in 12 of 66, bilateral pes equinovares (BPEV) in 40 of 66, and Holt-Oram syndrome in one of 66

Marfan Syndrome - Pediatrics - Orthobullets

Arthrogryposis - Birth Defect Fact Shee

A normal one suggests that arthrogryposis is a result of amyoplasia (the most common recognizable form of AMC which is a sporadic symmetric syndrome that is characterized by the symmetrical improper development of limb muscles which are replaced by fatty and connective tissue and often a midline hemangioma), distal arthrogryposis (an autosomal-dominant inherited syndrome with a characteristic. Arthrogryposis is a non progressive neuro-musculoskeletal, congenital disorder characterized by various joint contractures. It is also known as arthrogryposis multiplex congenital (AMC). Contractures, muscle weakness, stiffness, poor mobility or immobility and fibrosis are usually the presenting signs and symptoms of this condition Arthrogryposis multiplex congenita (AMC) is a syndrome characterized by nonprogressive multiple congenital joint contractures. The etiology of disease is multifactorial; it is most commonly suspected from absent fetal movements and genetic defects. AMC affects mainly limbs; also it might present with other organs involvement. It is crucial that the diagnosis of AMC should be kept in mind by. Pediatric Syndromes Cerebral Palsy Cerebral Palsy - General present in 68-80% of patients with arthrogryposis; Treatment nonoperative observation alone . observe alone while addressing other hand/foot deformities. Six children had clinical signs of myopathy; different genetic syndromes were identified or suspected in ten children (Larsen syndrome, Turner syndrome, facio-audio-symphalangism syndrome Sprenger syndrome), six children had arthrogryposis in the lower extremities only, two of these with vertebral anomalies and caudal regression syndrome, and a further 12 children had arthrogryposis that we.

Arthrogryposis Radiology Reference Article Radiopaedia

Which conditions and syndromes are associated with

Arthrogryposis: Joint contractures that develop before birth and are evident at birth. With arthrogryposis there is a lack of the normal range of motion in one or more joints. In normal embryonic development, joints can be seen moving by 8 weeks of gestation Biallelic deletions of SOX10 cause a recognizable arthrogryposis syndrome with white hair, short palpebral fissures and dystopia canthorum as distinguishing manifestations. Among the many arthrogryposis syndromes, only biallelic sequence variants of PAX3 , another gene associated with Waardenburg syndrome, has been shown to cause a comparable phenotype, albeit less severe (Hall and Kiefer.

Freeman-Sheldon syndrome - Wikipedi

Cooper's parents were advised to abort him during their pregnancy. They decided against this and he was born with arthrogryposis and TARS. Cooper is now six. Distal Arthrogryposis Syndrome @article{Jagdhari2011DistalAS, title={Distal Arthrogryposis Syndrome}, author={Smriti B Jagdhari and Vinod Madan Patni and M. Motwani and S. Kailasam}, journal={Journal of Indian Academy of Oral Medicine and Radiology}, year={2011}, volume= {23. Arthrogryposis multiplex congenita or arthrogryposis is a collective term applied to a very large number of different syndromes. Read about Arthrogryposis multiplex congenit The clinical and neuroimaging features of the syndrome of BPP with congenital arthrogryposis appear similar to those seen in cases of isolated BPP without joint contractures, but electrophysiological studies often demonstrate coexistent lower motor neuron or peripheral nervous system pathology. Thes

Arthrogryposis syndrome definition of arthrogryposis

Arthrogryposis with restricted joint mobility is present in both proximal and distal joints, including hips, elbows, hands, Manitoba aboriginal kindred with original cerebro-oculo- facio-skeletal syndrome has a mutation in the Cockayne syndrome group B (CSB) gene. Am J Hum Genet. 2000 Apr;66(4):1221-8 Methods We performed next generation sequencing (NGS) in 190 probands with a diagnosis of arthrogryposis multiplex congenita, distal arthrogryposis, fetal akinesia deformation sequence or multiple pterygium syndrome. This sequencing was a combination of bespoke neurogenetic disease gene panels and whole exome sequencing. Only class 4 and 5 variants were reported, except for two cases where the.

Acardiac-acephalus - Congenital Malformations Browser

Pena Shokeir syndrome (PSS) and Cerebroculofacioskeletal (COFS) syndrome are prototype of the fetal akinesia spectrum of disorders. With this background, the differential diagnoses considered in the index patient were (a) distal arthrogryposis syndromes: Freeman Sheldon syndrome (FSS, DAIIA), Sheldon Hall Syndrome (SHS, DAIIB) and (b) fetal akinesia syndromes: COFS and PSS Pena-Shokeir syndrome X-linked arthrogryposis syndromes: Figures/Tables References . Authors. Seth Langston, MD, is a Senior Neonatology Fellow. Alison Chu, MD, is. Pena-Shokeir syndrome is a rare autosomal recessive disease, characterized by facial anomalies, arthrogryposis, polyhydramnios, fetal growth restriction, and pulmonary hypoplasia. This report describes the findings of this anomaly with two and three-dimensional ultrasound in a female in her 28 th week of pregnancy, who was referred to us because the fetus presented arthrogryposis of unknown cause Editor—The distal arthrogryposes are a group of inherited disorders with congenital contractures of the distal extremities. A father and daughter with similar distal extremity contractures, distinct facial features, depressed coronal sutures, and congenitally absent teeth characterise a new type of distal arthrogryposis. An 11 year old girl was seen for evaluation of finger contractures Arthrogryposis multiplex congenita is a collective term applied to a very large number of different syndromes characterised by non-progressive, multiple joint contractures present at birth. [1, 2] The joints usually develop normally in early embryonic life but, as gestation progresses, movements are required to facilitate normal development

Arthrogryposis Syndrome (Arthrogryposis Multiplex

  1. Arthrogryposis 1. 03/13/1403/13/14 sitanshusitanshu ARTHROGRYPOSISARTHROGRYPOSIS 2. 03/13/14 sitanshu comprises nonprogressive conditionscomprises nonprogressive conditions characterized by multiple jointcharacterized by multiple joint contractures found at birthcontractures found at birth 1 in 3000 live births1 in 3000 live births Multiple congenital contracturesMultiple congenital contracture
  2. REVIEW ARTICLE Review of X-Linked Syndromes with Arthrogryposis or Early Contractures—Aid to Diagnosis and Pathway Identification Jesse M. Hunter,1 Jeff Kiefer,2 Christopher D. Balak,1 Sonya Jooma,1 Mary Ellen Ahearn,1 Judith G. Hall,3 and Lisa Baumbach-Reardon1* 1Integrated Functional Cancer Genomics, Translational Genomics Research Institute, Phoenix, Arizon
  3. Meet our inspiring arthrogryposis patient, Tanner Wright. Arthrogryposis can cause curved or hooked joints and limited joint motion. Because of this conditio..

Distal arthrogryposis type 1: MedlinePlus Genetic

  1. arthrogryposis syndrome. Interpretation Translation Arthrogryposis — Classification and external resources ICD 10 Q74.3 ICD 9 728.3.
  2. Arthrogryposis multiplex congenita (AMC) is a heterogeneous condition defined as multiple congenital joint contractures in two or more body areas. The common pathogenesis is impaired fetal movements. Amyoplasia, the most frequent form, is a sporadically occurring condition with hypoplastic muscles and joint contractures. Distal arthrogryposis (DA) syndromes are often hereditary, and joint.
  3. Arthrogryposis-renal dysfunction-cholestasis syndrome is a rare lethal disorder that involves multipl organ system. It is inherited autosomal recessive and caused by defects in the VPS33B and VIPAR genes. Three cardinal findings of this syndrome are arthrogryposis, renal tubular dysfunction and cholestasis.The other organ involvements including ichthyosis, central nervous system malformation.
  4. Arthrogryposis -- renal dysfunction -- cholestasis syndrome: Introduction. Arthrogryposis -- renal dysfunction -- cholestasis syndrome: A very rare syndrome characterized by joint contractures, kidney dysfunction and liver problems. More detailed information about the symptoms, causes, and treatments of Arthrogryposis -- renal dysfunction -- cholestasis syndrome is available below
  5. Conclusions Congenital Zika syndrome should be added to the differential diagnosis of congenital infections and arthrogryposis. The arthrogryposis was unrelated to the abnormalities of the joints themselves, but was possibly of neurogenic origin, with chronic involvement of central and peripheral motor neurones leading to deformities as a result of fixed postures in utero
  6. Arthrogryposis: Introduction. A muscle condition which causes the range of motion of a joint to be limited. The condition can occur in numerous joints or in only a few and the degree of limitation of joint movement may also vary greatly - sometimes the range is limited so little that it is barely noticeable
  7. CURLY CALF SYNDROME (ARTHROGRYPOSIS MULTIPLEX) TEST AVAILABLE Written by Alison Van Eenennaam . Page 2 of 3 Alison Van Eenennaam, UC Davis Curly Calf Syndrome (Arthrogryposis Multiplex) Test Available, February 2009 and found to be a non-carrier (AMF) did not inherit the mutation and will not carry or transmi

Arthrogryposis General Information - The Arthrogryposis

Svenska synonymer. AMC — Artrogrypos. Engelska synonymer. Arthrogryposes — Arthromyodysplasia, Congenital — Arthromyodysplasias, Congenital — Congenital Arthromyodysplasias — Congenital Arthromyodysplasia — Guerin-Stern Syndrome — Guerin Stern Syndrome — Syndrome, Guerin-Stern — Myodystrophia Fetalis Deformans — Arthrogryposis Multiplex Congenita — Arthrogryposis. Arthrogryposis, or arthrogryposis multiplex congenital, is a syndrome of joint contractures that are present at birth and are nonprogressive. 22 There are multiple forms of arthrogryposis that vary in presentation, severity, and number of involved joints Some cases of arthrogryposis are caused by a mistake in the baby's genetic information, however, in other cases, the baby might inherit the syndrome from one or both of the parents. In case of movement problems or intellectual disability in your family, be sure to mention this to your physician Distal arthrogryposis syndromeDefinitionDistal arthrogryposis syndrome is a rare genetic disorder in which affected individuals are born with a characteristic bending at the joints of the hands and feet. A contracture is the word used to describe what happens at the joints to cause this bending. In addition to contractures of the hand and feet, individuals with distal arthrogryposis are born.

Examples include multiple pterygium syndromes, Freeman-Sheldon syndrome, distal arthrogryposis types IIB, IIC, IID and IIE. 3. Disorder involving limbs and the nervous system Arthrogryposis 101: Introduction to amc Arthrogryposis, also known as Arthrogryposis Multiplex Congenita (AMC) is a descriptive diagnosis for any child born with stiff joints in more than one limb. There are over 300 different conditions and syndromes that fit the Arthrogryposis definition, and all 300 fit into one of 3 subcategories: Amyoplasia, Distal Arthrogryposis (DAs), and Neuromuscular. Definition. Arthrogryposis is the presence of nonprogressive, usually symmetric, congenital contractures of 2 or more different body areas. Arthrogryposis or arthrogryposis multiplex congenita are general terms that describe various syndromes that involve multiple contractures Arthrogryposis Multiplex Congenita (AMC) is a condition that causes a newborn to have stiff, crooked, and contracted joints at birth that causes a loss of range of motion in more than one joint (hands, feet, hips, knees, elbows, shoulders, wrists, fingers, toes, the jaw and the spine). This lack of joint mobility is often accompanied by fibrous ankylosis, which is an overgrowth or. Congenital arthrogryposis-hydranencephaly syndrome caused by Akabane virus in newborn calves of Basrah Governorate, Iraq, Veterinary World, 10(9): 1143-1148. Abstract Aim: The study was conducted in Basrah, Iraq, to diagnose congenital arthrogryposis-hydranencephaly syndrome caused by Akabane virus (AKAV) in calves

Arthrogryposis Multiplex Congenita Support, Inc. 2018 Membership Form Nationally recognized as an Official 501 (c)(3) Non-Profit Organization All of our programs are fully funded by our AMC community Distal Arthrogryposis Type 2 is further classified into two groups termed as DA2A (FSS) and DA2B (Sheldon-Hall syndrome). DA2B is an intermediary phenotype between DA1 and FSS. DA2B is also referred to as a variant of FSS (Krakowiak et al., 1998).Clinical features are likely similar to those of DA1, including ulnar deviation, overriding fingers at birth and camptodactyly Disease summary: Distal arthrogryposis type 1A (DA1A; MIM 108120) and 1B (DA1B; MIM 614335) - congenital non-progressive myopathies - manifest contractures of the hands and ankle-foot complex strongly resembling those observed in Freeman-Burian and Sheldon-Hall syndromes (FBS and SHS) but lack additional craniofacial findings Arthrogryposis Multiplex (AM), known in the U.S. as Curly Calf Syndrome, is a lethal genetic disorder that results in stillborn calves with bent and twisted spines. AM is a genetic disorder that has been identified in certain Angus or Angus crossbred cattle. It occurs when a small segment of DNA containing an essential gene is missing Overview. Arthrogryposis, or arthrogryposis multiplex congenita (AMC), is a rare condition that exists at the time of birth, which means that it is congenital in nature.It refers to the development of multiple joint contractures affecting two or more areas of the body prior to birth. The name arthrogryposis derives from a Greek term which means curving of joints

Arthrogryposis as a Syndrome: Gene Ontology Analysi

Arthrogryposis multiplex congenita is a collective term applied to a very large number of different syndromes characterised by non-progressive, multiple joint contractures present at birth.1,2 The joints usually develop normally in early embryonic life but, as gestation progresses. The other forms with a genetic basis such as Escobar Syndrome, Popliteal Pterygium Syndrome, Polymicrogyri, Distal Arthrogryposis, Larsen Syndrome, conditions caused by RYR1 Mutations as well as others are unique and will be discussed separately. AMC will present at birth or even in utero with lack of fetal movement Arthrogryposis multiplex congenita; Centronuclear Myopathy; Congenital Contractural Arachnodactyly; Congenital Myasthenia Syndrome; Distal Arthrogryposis; Fetal Akinesia Deformation Sequence/Pena-Shokeir Syndrome; Lethal Congenital Contracture Syndrome; Lethal Multiple Pterygium Syndrome; Ullrich Congenital Muscular Dystroph

Amyoplasi - Socialstyrelse

Orpha Number: 2697 Disease definition Arthrogryposis-Renal dysfunction-Cholestasis (ARC) syndrome is a multisystem disorder, characterized by neurogenic arthrogryposis multiplex [rarediseases.info.nih.gov]. Key words Neurogenic arthrogryposis Parenchymal giant cell transformation Pigmentary liver disease Ductopenia Renal tubulopathy Abbreviation ARC arthrogryposis, renal dysfunctio (Päd) Arthrogryposis f multiplex congenita, Myodysplasia f fetalis deformans, Arthromyodysplasia f congenita, Guérin Sternsches Syndrom n, angeborene systematisierte Gelenkdysplasie f, angeborene Krummgelenkigkeit

Search term. Advanced Search Citation Search. Searc Distal arthrogryposis syndrome . By K. P. Kulkarni, I. Panigrahi, M. Ray and R. K. Marwaha. Abstract. A 5-month-old male infant presented with weak cry, decreased body movements, tightness of whole body since birth, and one episode of generalized seizure on day 4 of life BACKGROUND AND PURPOSE: Arthrogryposis is among the malformations of congenital Zika syndrome. Similar to the brain, there might exist a spectrum of spinal cord abnormalities. The purpose of this study was to explore and describe in detail the MR imaging features found in the spinal cords, nerve roots, and brains of children with congenital Zika syndrome with and without arthrogryposis

Start studying Arthrogryposis, Osteogenesis Imperfecta, William's Syndrome, Prader-Willi Syndrome, Rett Syndrome, Fragile X Syndrome, and Cornelia de Lange Syndrome. Learn vocabulary, terms, and more with flashcards, games, and other study tools Arthrogryposis, Congenital Multiple; Arthrogryposis Multiplex Congenita; Arthrogryposis Multiplex Congenita (AMC) Guerin Stern Syndrome; Guerin-Stern Syndrome; Guérin Stern Syndrome; Guérin-Stern Syndrome; Multiple Arthrogryposes, Congenital; Multiple Arthrogryposis, Congenital Multiple pterygium syndrome is a very rare disorder characterized by permanently bent fingers (camptodactyly), short stature, rocker-bottom or club feet, joints that are bent in a fixed position (contractures), union or webbing of the skin between the fingers (syndactyly), and/or webbing of the neck, inside bend of the elbows, back of the knees and armpits

108200 - arthrogryposis, distal, type 6; da6 - arthrogryposis and sensorineural deafnes Arthrogryposis-renal dysfunction-cholestasis (ARC) syndrome (MIM 208085) is a rare autosomal recessive disorder, which was first recognized in the offspring of a consanguineous marriage in 1973 [].As a fatal multisystem disorder, an affected child would present a series of clinical features in musculoskeletal systems, kidney, liver, and central nervous at birth Sheldon-Hall syndrome (SHS) is a rare multiple congenital contracture syndrome characterized by contractures of the distal joints of the limbs, triangular face, downslanting palpebral fissures, small mouth, and high arched palate. Epidemiological data for the prevalence of SHS are not available, but less than 100 cases have been reported in the literature New recommendations on Sheldon-Hall syndrome and on Distal arthrogryposis type 3 20.02.2019. We are happy to present you 2 new recommendations: Sheldon-Hall syndrome Distal arthrogryposis type 3. Biliary atresia - Spanish translation online 12.02.2019

Arhinencephaly/holoprosencephaly - Congenital

Distal arthrogryposis (DA) syndromes are a group of multiple congenital contracture disorders with distal joint involvement, variable clinical expression, and most often autosomal dominant inheritance (Bamshad et al. 2009). Pathogenic variants in PIEZO2 cause Gordon syndrome and distal arthrogryposis type 5. Gordon syndrome (distal arthrogryposis type 3) is a rare, autosomal-dominant disorder. Arthrogryposis is a condition that can affect the spine and most joints such as the hips, knees, ankles, shoulders, elbows and hands. Arthrogryposis may also be referred to as amyoplasia or arthrogryposis multiplex congenita (AMC). Escobar syndrome is a form of arthrogryposis where there is skin webbing at the joints (pterygium) Browse information about Arthrogryposis syndrome (Orphanet_109007) covering related drugs, phenotypes and literature text mining. Synonyms: arthrogryposis syndrome

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