Arthrogryposis: Causes & Reasons

Possible Causes for Arthrogryposis

Spinal muscular atrophies with onset at birth may be a cause of arthrogryposis. [ncbi.nlm.nih.gov]

Infantile X-linked spinal muscular atrophy (SMAX2) is a rare form of spinal muscular atrophy manifesting as severe hypotonia, areflexia, arthrogryposis, facial weakness and [ncbi.nlm.nih.gov]

multiplex congenita-SMA Onset before 6 months of age: SMA1 Onset between 6 and 12 months: SMA2 Childhood onset after 12 months: SMA3 Adult onset: SMA4. [medicinenet.com]

Nemaline Myopathy Type 9

Mutations in the NEB gene cause fetal akinesia/arthrogryposis multiplex congenita. [frontiersin.org]

Few antenatal diagnosis have been described and the majority of cases were described as Fetal Akinesia deformation Sequence (FADS) or Arthrogryposis Multiplex Congenital [thefetus.net]

Presentation was at birth with hypotonia, pterygia, and arthrogryposis. [emedicine.medscape.com]

Spinal Muscular Atrophy Type 1

Congenital SMA with arthrogryposis Congenital SMA with arthrogryposis is a rare disorder. [medicalnewstoday.com]

ALTERNATE NAMES Prenatal onset arthrogryposis multiplex congenital (SMA0), Werdnig-Hoffman disease-Infantile Muscular Atrophy (SMA1) DIAGNOSTIC TESTING AND CODING The clinical [secure.ssa.gov]

If the child with SMA has been born with arthrogryposis, early involvement is critical. [medicalhomeportal.org]

Pontocerebellar Hypoplasia Type 8

[…] neuron degeneration COASY PCH12 (OMIM 618266) AR Prenatal-onset microcephaly; hypoplasia of cerebellum, brain stem, spinal cord Severe prenatal-onset PCH, microcephaly, arthrogryposis [ncbi.nlm.nih.gov]

Ehlers-Danlos Syndrome Musculocontractural Type 1

Multiple Pterygium Syndrome, Autosomal Dominant Multiple Pterygium Syndrome, Lethal Type neurogenic arthrogryposis multiplex congenita + Neuropathy, Congenital, with Arthrogryposis [rgd.mcw.edu]

multiplex congenita ; Atrial septal defect ; Autosomal recessive inheritance ; Blue sclerae ; Brachycephaly ; Broad forehead ; Bruising susceptibility ; Cleft palate ; Constipation [mousephenotype.org]

Acronym EDSMC1 Synonyms Adducted thumb-clubfoot syndrome Adducted thumbs-arthrogryposis Dundar type Arthrogryposis distal with peculiar facies and hydronephrosis ATCS Dundar [uniprot.org]

Arthrogryposis - Renal Dysfunction - Cholestasis Syndrome

Rompe G (ed) (1968) Die Arthrogryposis multiplex congenita und ihre Differentialdiagnose. Georg Thieme, Stuttgart Google Scholar 29. [doi.org]

Differential diagnosis The differential diagnosis should include progressive familial intrahepatic cholestasis disorders, other forms of arthrogryposis multiplex congenita [rarediseases.info.nih.gov]

Arthrogryposis multiplex congenita CNS calcification. [en.wikipedia.org]

Neurogenic Arthrogryposis Multiplex Congenita

Multiplex Congenita, Distal Arthrogryposis multiplex congenita, distal type 1 Arthrogryposis multiplex congenita, distal type 1 Arthrogryposis multiplex congenita, distal [acronyms.thefreedictionary.com]

AMCN as abbreviation means "Arthrogryposis multiplex congenita neurogenic" How to abbreviate Arthrogryposis multiplex congenita neurogenic? [allacronyms.com]

arthrogryposis multiplex congenita neurogenic type AMC neurogenic type AMCN Guerin-Stern syndrome arthrogryposis Amc, Neurogenic Type ARTHROGRYPOSIS MULTIPLEX CONGENITA, [wikidata.org]

Arthrogryposis Multiplex Congenita

Homepage Rare diseases Search Search for a rare disease Neurogenic arthrogryposis multiplex congenita Disease definition Neurogenic arthrogryposis multiplex congenita is a [orpha.net]

Called also arthrogryposis multiplex congenita. [medical-dictionary.thefreedictionary.com]

[…] form of arthrogryposis multiplex congenita characterized by congenital immobility of the limbs with fixation of multiple joints and muscle wasting. [orpha.net]

Arthrogryposis due to Muscular Dystrophy

Called also arthrogryposis multiplex congenita. [medical-dictionary.thefreedictionary.com]

Yet, the existing medical literature on arthrogryposis is sparse and often confusing. [books.google.com]

Arthrogryposis multiplex congenita CNS calcification. [monsterologist.blogspot.com]

X-linked Distal Spinal Muscular Atrophy Type 3

X-linked spinal muscular atrophy type 2 (SMAX2, XLSMA), also known as arthrogryposis multiplex congenita X-linked type 1 (AMCX1), is a rare neurological disorder involving [en.wikipedia.org]

Arthrogryposis is often classified by affected body area (e.g., distal arthrogryposis); generalized arthrogryposis is referred to as arthrogryposis multiplex congenita. [ncbi.nlm.nih.gov]

Hypoplasia of posterior spinal roots and dorsal spinal tracts with arthrogryposis multiplex congenita. Acta Neuropathol 1990; 79 : 692–696. 19. [nature.com]

Joint Contracture

What Is Arthrogryposis? Arthrogryposis multiplex congenita (AMC) is a condition that leads to a limited range of joint motion. [gillettechildrens.org]

This condition is also called arthrogryposis multiplex congenita. “Arthrogryposis” means the joints are curved or crooked. [seattlechildrens.org]

Arthrogryposis: a review and update. J Bone Joint Surg Am. 2009;91:40-46. Fassier A, Wicart P, Dubousset J, Seringe R. Arthrogryposis multiplex congenita. [rarediseases.org]

Congenital Vertical Talus

We classified 229 patients into five distinct groups: Group I had amyoplasia or so-called classic arthrogryposis, Group II had distal arthrogryposis, Group III had a specific [ncbi.nlm.nih.gov]

multiplex congenita. [ncbi.nlm.nih.gov]

[…] may be an isolated conditions, exist as part of a syndrome (e.g. craniocarpotarsal dysplasia, trisomy 13, trisomy 18), or be associated with other systemic abnormalities (arthrogryposis [advancedradteaching.com]

Distal Spinal Muscular Atrophy Type 5

Arthrogryposis Multiplex Congenita and Motor Neuron Diseases Arthrogryposis multiplex congenita, a syndrome manifesting at birth, is characterized by multiple, fixed contractures [clinicalgate.com]

multiplex congenita neurogenic type Dermatoosteolysis Kirghizian type Ring chromosome 13 Wells-Jankovic syndrome Familial partial lipodystrophy Renal coloboma syndrome GM3 [checkrare.com]

[…] erythroderma Familial ocular anterior segment mesenchymal dysgenesis IMAGe syndrome Intermittent hydrarthrosis Lamellar ichthyosis Self-healing collodion baby TRAPS syndrome Arthrogryposis [csbg.cnb.csic.es]

Distal Spinal Muscular Atrophy Type 3

Multiplex Congenita, Distal, X-Linked Arthrogryposis, X-LInked, Type I; AMCX1 Spinal Muscular Atrophy, Infantile X-LInked Spinal Muscular Atrophy, X-Linked 2, Infantile Spinal [ukgtn.nhs.uk]

Oman Aithala et al. (1995) reported the co-occurrence of spinal muscular atrophy (SMA) with arthrogryposis multiplex congenita in monozygotic male twins who were the product [cags.org.ae]

He had microcephaly (head circumference- 36.5 cm, rd centile), retrognathia, and arthrogryposis. [annalsofian.org]

Congenital Clubfoot

Synonyms of Arthrogryposis Multiplex Congenita AMC arthrogryposis Subdivisions of Arthrogryposis Multiplex Congenita amyoplasia distal arthrogryposis ptergium syndrome General [rarediseases.org]

- diff dx: - myotonic muscular dystrophy - arthrogryposis multiplex congenita - myelomeningocele club foot - poliomyelitis - cerebral palsy - peroneal type of progressive [wheelessonline.com]

multiplex congenita. [patientcareonline.com]

Muscular Dystrophy-Dystroglycanopathy Type C7

multiplex congenita Arthrogryposis multiplex congenita-whistling face syndrome Arthrogryposis syndrome Arthrogryposis-hyperkeratosis syndrome, lethal form Arthrogryposis-like [se-atlas.de]

multiplex congenita Bannayan-Riley-Ruvalcaba syndrome Barth syndrome Becker muscular dystrophy Benign Samaritan congenital myopathy Bethlem myopathy Birt-Hogg-Dubé syndrome [se-atlas.de]

multiplex congenita neurogenic type Dermatoosteolysis Kirghizian type Ring chromosome 13 Wells-Jankovic syndrome Familial partial lipodystrophy Renal coloboma syndrome GM3 [checkrare.com]

Bruck Syndrome

Bruck syndrome is characterised by osteogenesis imperfecta and arthrogryposis multiplex. [ncbi.nlm.nih.gov]

Abstract Bruck syndrome is characterised by osteogenesis imperfecta and arthrogryposis multiplex. [doi.org]

ARTHROGRYPOSIS MULTIPLEX CONGENITA DR: NAVEED JUMANI RESIDENT DEPARTMENT OF ORTHOPEDIC SURGERY LIAQUAT NATIONAL HOSPITAL 2. [slideshare.net]

Kuskokwim Disease

Arthrogryposis multiplex congenita CNS calcification. [monsterologist.blogspot.com]

multiplex congenita distal or AMCD also known as Arthrogryposis multiplex congenita, distal, x-linked or AMCX1 and Arthrogryposis spinal muscular atrophy Arthrogryposis multiplex [primehealthchannel.com]

Homepage Rare diseases Search Search for a rare disease Arthrogryposis multiplex congenita Disease definition Arthrogryposis multiplex congenita (AMC) is a group of disorders [orpha.net]

Fitzsimmons-McLachlan-Gilbert Syndrome

Amitriptyline toxicity Ammonium bifluoride Amoxapine toxicity Amyotrophic lateral sclerosis Angelman syndrome Anxiety Apoplexy Arizona bark scorpion poisoning Artemether Arthrogryposis [wikidoc.org]

[…] corpus callosum agenesis Facial dysmorphism macrocephaly myopia Dandy Walker type Facial dysmorphism shawl scrotum joint laxity syndrome Facial paralysis Facies unusual arthrogryposis [academickids.com]

Homocystinuria, Hyperthyroidism, Methylmalonic aciduria, Phenylketonuria, Thyrotoxicosis Environmental No underlying causes Gastroenterologic Hepatic coma, Reye's syndrome Genetic Arthrogryposis [wikidoc.org]

Congenital Malformation of the Knee Joint

multiplex congenita... [read.qxmd.com]

Arthrogryposis is a congenital disorder characterized by multiple joint contractures found throughout the body at birth. [ingentaconnect.com]

Multiplex Congenita... [read.qxmd.com]

Renal Tubular Dysfunction

Herein, we reported on a neonate with arthrogryposis-renal tubular dysfunction-cholestasis syndrome presenting very early after birth. [ncbi.nlm.nih.gov]

Arthrogryposis-renal dysfunction-cholestasis syndrome is a rare lethal disorder that involves multipl organ system. [ncbi.nlm.nih.gov]

Arthrogryposis-renal tubular dysfunction-cholestasis syndrome (MIM No. 208085) is a rare multisystem disorder involving the liver, kidney, skin, and central nervous and musculoskeletal [ncbi.nlm.nih.gov]

Paramyoclonus Multiplex

Источник: Медицинский словарь … Медицинские термины multiplex — see ARTHROGRYPOSIS MULTIPLEX CONGENITA, MONONEURITIS MULTIPLEX, PARAMYOCLONUS MULTIPLEX … Medical dictionary [useful_english.enacademic.com]

Glycogen Storage Disease Type 4

Other presentations include cardiomyopathy, arthrogryposis and even hydrops fetalis. [ingentaconnect.com]

multiplex congenita ( 3 Files ) Erkrankung: Arthrogryposis multiplex congenita ICD 10: Q74.32 Synonyme: Arthrogryposis, Amyoplasia Congenita, Congenitale Arthromyodysplasie [orphananesthesia.eu]

The most severe form starts before birth with decrease or absence of fetal movements, arthrogryposis, hypoplastic lungs, and perinatal death. [orpha.net]

Tel Hashomer Camptodactyly Syndrome

Yet, the existing medical literature on arthrogryposis is sparse and often confusing. [books.google.com]

Paholke Cambridge University Press, 28 abr. 1998 - 178 páginas The term arthrogryposis describes a range of congenital contractures that lead to childhood deformities. [books.google.es]

Diagnostic Considerations Disorders characterized mainly by limb involvement [12] Amyoplasia (classic arthrogryposis) [7, 13] This is characterized as follows: The most common [emedicine.medscape.com]

Humero-Radial Synostosis

Yet, the existing medical literature on arthrogryposis is sparse and often confusing. [books.google.de]

Unspecified axis i…..Soft tissue d) Distal arthrogryposis iii. [trialregister.nl]

Paholke Cambridge University Press, 28.04.1998 - 178 Seiten The term arthrogryposis describes a range of congenital contractures that lead to childhood deformities. [books.google.de]

Polyglucosan Body Myopathy Type 2

multiplex congenita, distal, type 1, 108120 TNNI2 Arthrogryposis multiplex congenita, distal, type 2B, 601680 MYH3 Arthrogryposis, distal, type 2A, 193700 MYH3-TPM2 Arthrogryposis [gsdseq.ir]

A novel neuromuscular form of glycogen storage disease type IV with arthrogryposis, spinal stiffness and rare polyglucosan bodies in muscle Malfatti E, Barnerias C, Hedberg-Oldfors [myobase.org]

renal dysfunction, and cholestasis Renal / Nephrological Arthrogryposis, renal dysfuntion and cholestasis 2 Renal / Nephrological Atypical Hemolytic Uremic Syndrome (aHUS [genomediagnosticsnijmegen.nl]

Rigid Spine Syndrome

The antenatal form with arthrogryposis is characterized by stiff, rigid joints throughout the body (arthrogryposis) and distinctive facial features. [medlineplus.gov]

Other subtypes of MmD include a moderate form with hand involvement, a severe prenatal form with arthrogryposis, and an ophthalmoplegic form [dnatesting.uchicago.edu]

multiplex congenita ( 3 Files ) Disease name: Arthrogryposis multiplex congenita ICD 10: Q74.32 Synonyms: Arthrogryposis, Amyoplasia Congenita, Congenital Arthromyodysplasia [orphananesthesia.eu]

Congenital Myopathy with Excess of Thin Filaments

Banker BQ: Arthrogryposis multiplex congenita: Spectrum of pathologic changes. Hum Pathol 1986;17:656–672. [karger.com]

Presentation was at birth with hypotonia, pterygia, and arthrogryposis. [emedicine.medscape.com]

multiplex congenita). [rarediseases.org]

Congenital Metatarsus Varus

Arthrogryposis multiplex congenita improves with time. [pediatricneuro.com]

Clinical summary Arthrogryposis multiplex congenita, distal, type 1 (DA1) is the prototypic form of distal arthrogryposis and as such is largely characterized by camptodactyly [bredagenetics.com]

Neonates with arthrogryposis multiplex congenita may have facial dysmorphysm. [pediatricneuro.com]

Mesoaxial Synostotic Syndactyly with Phalangeal Reduction

multiplex congenita TNNT1 Nemaline myopathy TPM2 Arthrogryposis, distal, CAP myopathy, Nemaline myopathy TPM3 CAP myopathy, Myopathy, congenital, with fiber- disproportion [genda.com.ar]

multiplex congenita Nodular neuronal heterotopia Nodulosis-arthropathy-osteolysis syndrome Non-X-linked congenital disorder of glycosylation with intellectual disability [se-atlas.de]