Congenital Contracture: Causes & Reasons

Possible Causes for Congenital Contracture

Arthrogryposis - Renal Dysfunction - Cholestasis Syndrome

This flap is particularly useful in the congenital contractural conditions that have the appearance of a small ptyerigium or increased skin in the dorso-palmar plane of the [doi.org]

[…] of right radial head Congenital flexion contracture of knee Congenital generalized flexion contractures of lower limb joints Congenital muscular dystrophy with arthrogryposis [icd9data.com]

contractures of limbs, without primary neurologic and/or muscle disease that affects limb function, and ocular anomalies (ptosis, external ophtalmoplegia and/or strabismus [orpha.net]

Neurogenic Arthrogryposis Multiplex Congenita

This flap is particularly useful in the congenital contractural conditions that have the appearance of a small ptyerigium or increased skin in the dorso-palmar plane of the [doi.org]

Arthrogryposes (Multiple Congenital Contractures). In: Emery and Rimoin’s Principle and Practice of Medical Genetics, 6th Ed. [rarediseases.org]

contractures at the elbows and knees, myopathy, absence of muscle spindles, congenital heart disease and spinal motor nueron depletion that has_material_basis_in variation [informatics.jax.org]

Arthrogryposis Multiplex Congenita

BACKGROUND: The population prevalence of multiple congenital contractures, many of which have either arthrogryposis multiplex congenita or amyoplasia congenita, ranges from [ncbi.nlm.nih.gov]

Arthrogryposis multiplex congenites. Jama, 81 (1923), pp. 1507-1510 [31.] C.A. Swinyard, E.E. Bleck. The etiology of arthrogryposis (multiple congenital contracture). [elsevier.es]

Its etiology still remains unclear but generally any cause that leads to reduced fetal movement may lead to congenital contractures and in severe cases to fetal akinesia deformation [ncbi.nlm.nih.gov]

Arthrogryposis due to Muscular Dystrophy

Key Points Descriptive term that refers to the presence of congenital contractures in two or more joints. [mhmedical.com]

When congenital contractures occur only in one body area, it is not referred to as arthrogryposis but rather an isolated congenital contracture. [blog.neuropedia.org]

Arthrogryposes (Multiple Congenital Contractures). In: Emery and Rimoin’s Principle and Practice of Medical Genetics, 6th Ed. [rarediseases.org]

Bruck Syndrome

Photographs and parental interview revealed a history of bilateral congenital knee contractures and significant bowing of the tibias. [jim.bmj.com]

In three reports, AR PLOD2 mutations are not associated with congenital contractures. [profiles.wustl.edu]

The pathogenesis of the congenital contractures is unknown, but the symmetry and lack of evidence of prior fracturing is suggestive of articular immobility during early intra-uterine [ncbi.nlm.nih.gov]

Kuskokwim Disease

Recessive mutations in FKBP10, a PPIase known to cause type XI OI, extend the phenotype to a congenital contracture syndrome (Kuskokwim disease), and cause diminished collagen [ashg.org]

Disease Overview Kuskokwim disease is a congenital (present at birth) contracture disorder that occurs solely among Yup’ik Eskimos in and around the Kuskokwim River delta [rarediseases.org]

Affected individuals usually have congenital contractures, especially of lower extremities, which progress during childhood and persist for the lifetime of the individual. [rarediseases.info.nih.gov]

Tel Hashomer Camptodactyly Syndrome

Congenital contractural arachnodactyly (Beals syndrome). Orphanet J Rare Dis 2006; 1: 20. 9. Patel ZM, Adhia RA. [caribbean.scielo.org]

Paholke Cambridge University Press, ٢٨‏/٠٤‏/١٩٩٨ - 178 من الصفحات The term arthrogryposis describes a range of congenital contractures that lead to childhood deformities. [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]

X-linked Distal Spinal Muscular Atrophy Type 3

Often congenital contractures and/or fractures are present. Intellect is normal. [ncbi.nlm.nih.gov]

Unlike classical SMA congenital contractures have been associated with each of these cases. [nature.com]

contracture syndrome (LCCS) type 1 LCCS2 SMA with lower extremity predominance (SMA-LED) SMA with distal weakness Distal SMA types 1,2,3,4,5 Amyotrophic lateral sclerosis [childneurologyfoundation.org]

Freeman-Sheldon Syndrome

Homepage Rare diseases Search Search for a rare disease Freeman-Sheldon syndrome Disease definition Freeman-Sheldon syndrome (FSS) is a very rare, multiple congenital contractures [orpha.net]

Abstract The genetic basis of most conditions characterized by congenital contractures is largely unknown. [ncbi.nlm.nih.gov]

Distal arthrogryposis is the most common known heritable cause of congenital contractures (e.g. clubfoot) and results from mutations in genes that encode proteins of the contractile [ncbi.nlm.nih.gov]

Autosomal-Recessive Non-Lethal Multiple Pterygium Syndrome

Congenital contractures are common and may be caused by reduced fetal movements at sensitive times of development. [abcam.com]

From Etiology see pathology Pathology nonlethal form of arthrogryposis multiplex congenita congenital contractures may be caused by reduced fetal movements at sensitive times [anvita.info]

It is an autosomal recessive condition characterized by excessive webbing (pterygia), congenital contractures (arthrogryposis), and scoliosis. [abcam.com]

Arthrogryposis Syndrome

Arthrogryposes (Multiple Congenital Contractures). In: Emery and Rimoin’s Principle and Practice of Medical Genetics, 6th Ed. [rarediseases.org]

The term encompasses a very heterogeneous group of disorders having the common feature of multiple congenital joint contractures. [link.springer.com]

Multiple congenital contractures have been recognized at birth for hundreds of years, particularly because there is often difficulty with delivery, and the contractures are [karger.com]

Malignant Hyperthermia - Arthrogryposis - Torticollis

Home » A recessive form of congenital contractures and torticollis associated with malignant hyperthermia SOURCE Journal of Medical Genetics;Feb1988, Vol. 25 Issue 2, p104 [connection.ebscohost.com]

Muscle weakness and congenital contractures in a case of congenital myasthenia. [arthritisresearch.us]

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]

Mesoaxial Synostotic Syndactyly with Phalangeal Reduction

Arthrogryposis, Lethal congenital contractural syndrome MYH2 Inclusion body myopathy MYH3 Arthrogryposis NALCN Congenital contractures of the limbs and face, hypotonia, and [genda.com.ar]

contracture syndrome Lethal congenital contracture syndrome type 1 Lethal congenital contracture syndrome type 2 Lethal congenital contracture syndrome type 3 Lethal faciocardiomelic [se-atlas.de]

GLE1 Arthrogryposis, lethal, with anterior horn cell disease, Lethal congenital contracture syndrome KLHL40 Nemaline myopathy MUSK Myasthenic syndrome, congenital RAPSN Myasthenic [genda.com.ar]

Joint Contracture

Bruck syndrome is an autosomal recessive syndrome consisting of bone fragility and congenital joint contractures. [ncbi.nlm.nih.gov]

Arthrogryposes (Multiple Congenital Contractures). In: Emery and Rimoin’s Principle and Practice of Medical Genetics, 6th Ed. [rarediseases.org]

Contracture of the joint causes Depending on the origin of contracture joint is congenital and acquired. The nature of congenital contracture is unpredictable. [medicalcentr.com]

Postaxial Oligodactyly, Tetramelic

CONTRACTURES OF THE LIMBS AND FACE, HYPOTONIA, AND DEVELOPMENTAL DELAY Craniomicromelic Syndrome Diaphragmatic Defects, Limb Deficiencies, and Ossification Defects Of Skull [crrd.mcw.edu]

Camptobrachydactyly Cartwright Nelson Fryns Syndrome Cerebrorenodigital Syndrome with Limb Malformations and Triradiate Acetabula CHILD Syndrome CHITAYAT SYNDROME cocoon syndrome CONGENITAL [crrd.mcw.edu]

Melhem-Fahl Syndrome

Contracture Syndrome 8 22 898 c BRC075 Brachydactyly, Type A1, C 22 899 c CLD019 Cleidocranial Dysplasia Spectrum Disorder 22 900 c LTH032 Lethal Congenital Contracture Syndrome [malacards.org]

[…] anomalies mental retardation, growth failure and cleft lip palate Multiple congenital contractures Multiple contracture syndrome Finnish type Multiple endocrine neoplasia [mindmappedia.com]

21 914 c NML021 Nemaline Myopathy 9 21 915 c LTH031 Lethal Congenital Contracture Syndrome 6 21 916 c BRC105 Brachydactyly, Type A1, D 21 917 c INF162 Inflammatory Bowel [malacards.org]

Autosomal Recessive Primary Microcephaly Type 10

contracture Hypoplasia of the pons Infantile encephalopathy Loss of Purkinje cells in the cerebellar vermis Nonprogressive encephalopathy Abnormal CNS myelination Acrania [mendelian.co]

Feeding difficulties Cerebellar hypoplasia Neuronal loss in central nervous system Congenital onset Cerebral atrophy Acidosis Progressive microcephaly Myopathy Hyperreflexia [mendelian.co]

Dyschondrosteosis-Nephritis Syndrome

contractural arachnodactyly FBN2 Del Dup NGS Congenital contracture syndrome extended NGS panel ADCY6, ADGRG6, CHRNA1, CHRND, CHRNG, CNTNAP1, DNM2, DOK7, ECEL1, ERBB3, FBN2 [ctgt.net]

Adrenal Hyperplasia (CAH) Congenital Bilateral Aplasia Of The Vas Deferens Congenital Contractural Arachnodactyly Core Myopathies - RYR1-related Myopathies Costello Syndrome [medical-genetics.de]

[…] myasthenic syndromes Syndrome type 2 lethal congenital contracture Syndrome Van der Knapp Tay Sachs Temtamy's syndrome Thymine-uraciluria Tibial muscular dystrophy Treacher [igenomix.us]

Congenital Malformation of the Knee Joint

contractural arachnodactylyPathogenic (Jul 1, 1998) no assertion criteria provided GRCh37: Chr6:33406650 GRCh38: Chr6:33438873 SYNGAP1 Mental retardation, autosomal dominant [ncbi.nlm.nih.gov]

DA type 5D is a subtype of DA type 5 inherited as autosomal recessive disorder, clinically characterized by congenital distal joint contractures, knee extension contractures [read.qxmd.com]

Congenital Contractural Arachnodactyly

We describe the case of an adolescent girl with congenital contractural arachnodactyly and its course from the moment of the birth, stressing the absence of data on injury [pesquisa.bvsalud.org]

OMIM Entries for Congenital Contractural Arachnodactyly ( View All in OMIM ) 121050 CONTRACTURAL ARACHNODACTYLY, CONGENITAL; CCA 612570 FIBRILLIN 2; FBN2 Molecular Genetic [ncbi.nlm.nih.gov]

Congenital contractural arachnodactyly is a rare autosomal dominant connective tissue disorder characterized by congenital flexion contractures, arachnodactyly, camptodactyly [symptoma.com]

Polyglucosan Body Myopathy Type 2

contracture syndrome 1 [AR] OMIM® OMIM® GLRA1 Hereditary hyperekplexia 1 [AR, AD] GHR | GeneReviews | OMIM® GNAT2 Achromatopsia 4 [AR] GHR | GeneReviews | OMIM® GNE Nonaka [genepeeks.com]

contractural syndrome 2, 607598 PIP5K1C Lethal congenital contractural syndrome 3, 611369 DNM2 Lethal congenital contracture syndrome 5, 615368 PTRF Lipodystrophy, congenital [gsdseq.ir]

4 (LCA4) Leber Congenital Amaurosis 5 (LCA5) Leigh syndrome Leigh Syndrome French-Canadian type (LSFC) Lesch-Nyhan syndrome Lethal congenital contracture syndrome 3 (LCCS3 [babygene.co.il]

Muscular Dystrophy-Dystroglycanopathy Type C7

Myopathy, congenital, Compton-North 612540 600016 Autosomal recessive CNTNAP1 17q21.2 Lethal congenital contracture syndrome 7 616286 602346 Autosomal recessive CNTNAP2 7q35 [mnglabs.com]

contracture syndrome 4 614915 160794 Autosomal recessive MYBPC1 12q23.2 Arthrogryposis, distal, type 1B 614335 160794 MYBPC3 11p11.2 Cardiomyopathy, hypertrophic, 4 115197 [mnglabs.com]

Hereditary Proximal Myopathy with Early Respiratory Failure

with contractures myopathy, desmin-related, associated with mutation in CRYAB myopathy, distal 1 Myopathy, Distal 2 myopathy, distal, Swedish Myopathy, Myofibrillar myopathy [medical-dictionary.thefreedictionary.com]

Other Names: IBM3; Myopathy with congenital joint contractures, ophthalmoplegia, and rimmed vacuoles; Inclusion body myopathy autosomal dominant; Hereditary inclusion body [en.wikipedia.org]

Autosomal dominant myopathy with congenital joint contractures, ophthalmoplegia, and rimmed vacuoles. Ann. Neurol. 1998; 44(2):242-8. PMID: 9708547 D'Amico, A, et al. [invitae.com]

X-Linked Mandibulofacial Dysostosis

Diamond-Blackfan anemia 15, with mandibulofacial dysostosis Dystonia 23 Keppen-Lubinsky syndrome Laurence-Moon syndrome Lethal congenital contracture syndrome 7 Lethal congenital [uniprot.org]

contractural arachnodactyly FBN2 Del Dup NGS Congenital contracture syndrome extended NGS panel ADCY6, ADGRG6, CHRNA1, CHRND, CHRNG, CNTNAP1, DNM2, DOK7, ECEL1, ERBB3, FBN2 [ctgt.net]

Syndrome Mental Retardation-Congenital Cataracts-Sensorineural Deafness-Hypogonadism-Hypertrichosis-Short Stature Syndrome Mental Retardation-Congenital Contractures-Low [neo-genetics.com]

Congenital Muscular Torticollis

[…] torticollis, Congenital wryneck, Contracture of sternocleidomastoid muscle, Congenital wry neck, Congenital torticollis (disorder), congenital; torticollis, contracture; sternocleidomastoid [fpnotebook.com]

[…] torticollis, congenital torticollis, congenital torticollis (diagnosis), Congenital (sternomastoid) torticollis, Congenital contracture of sternocleidomastoid (muscle), Congenital [fpnotebook.com]

sternocleidomastoid; contracture, torticollis; congenital, Congenital sternomastoid torticollis (disorder) [Ambiguous], Congenital sternomastoid torticollis -RETIRED-, Congenital [fpnotebook.com]

Otoonychoperoneal Syndrome

Paholke Cambridge University Press, 1998/04/28 - 178 ページ The term arthrogryposis describes a range of congenital contractures that lead to childhood deformities. [books.google.com]

[…] absence of heart structure Congenital anomaly of trunk Congenital contractural arachnodactyly Congenital iodine deficiency syndrome Congenital iodine deficiency syndrome [emedcodes.com]

Contracture Syndrome 8 22 898 c BRC075 Brachydactyly, Type A1, C 22 899 c CLD019 Cleidocranial Dysplasia Spectrum Disorder 22 900 c LTH032 Lethal Congenital Contracture Syndrome [malacards.org]

Spondylo-Megaepiphyseal-Metaphyseal Dysplasia

Mental and behavioural disorder H00865 Lethal congenital contractural syndrome Lethal congenital contractural syndrome (LCCS) is a heterogeneous group of disorders characterized [kegg.jp]

contractural arachnodactyly (Beal) Cranioectodermal dysplasia type 1 Cranioectodermal dysplasia type 2 Cranioectodermal dysplasia type 3 Cranioectodermal dysplasia type 4 [sickkids.ca]

contracture syndrome Limb-mammary syndrome Lissencephaly Lissencephaly, X-linked Lujan-Fryns syndrome Lymphedema-distichiasis syndrome Mandibular hypoplasia, deafness, progeroid [qlinics.com]

Distal Hereditary Motor Neuropathy Type 5A

Myasthenic Syndromes With Glycosylation Defect AR 100 57 of 57 GLDN Lethal Congenital Contracture Syndrome AR 98.46 13 of 13 GLE1 Congenital Arthrogryposis With Anterior [igenomix.es]

contractures, hip dislocation, excessive laxity and externally visible malformations of the head, cleft lip and/or palate, eye abnormalities (retinal dysplasia, anterior [explainmedicine.com]

[Emery-Dreifuss] Congenital muscular dystrophy NOS Congenital muscular dystrophy with specific morphological abnormalities of the muscle fiber Distal muscular dystrophy Limb-girdle [icd10data.com]

Stuve-Wiedemann Syndrome

In summary, our current patient presented with congenital contractures, associated with temperature instability and excessive sweating. [link.springer.com]

Ali Al Kaissi, Monika Rumpler, Robert Csepan, Franz Grill and Klaus Klaushofer, Congenital contractures and distinctive phenotypic features consistent with Stuve-Wiedmann [doi.org]

Al Kaissi A et al. (2008) Congenital contractures and distinctive phenotypic features consistent with Stuve-Wiedmann syndrome in a male infant. Cases J 1(1): 121. [forgottendiseases.org]

Osteoglophonic Dwarfism

Arthrogryposis, Lethal congenital contractural syndrome MYH2 Inclusion body myopathy MYH3 Arthrogryposis NALCN Congenital contractures of the limbs and face, hypotonia, and [genda.com.ar]

normal sclera, deforming fractures Bruck syndrome – bone fractures, clubfoot, normal to blue sclera, congenital joint contractures Shortened life span FLNA Frontometaphyseal [arupconsult.com]

contracture syndrome type 1 GLE1 Lethal congenital contracture syndrome type 4 MYBPC1 Limb-mammary syndrome TP63 Lissencephaly type 1 PAFAH1B1 Lissencephaly type 2 (Norman-Roberts [centogene.com]