Acronym LCCS6 Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. [uniprot.org]

Clinical description LMPS is characterised by growth deficiency of prenatal onset, pterygia present in multiple areas (chin to sternum, cervical, axillary, humero-ulnar, crural, popliteal, and the ankles) and flexion contractures giving rise to severe [orpha.net]

Ectopia lentis is very rare in CCA, but general ocular complications are estimated to be present in 20% of patients with CCA [ 2 ]. [ojrd.biomedcentral.com]

He retired as an active participant in 2002 but has remained on the faculty and continuing with research and education until the present time. Dr. Mankin served in many capacities in organizations. [books.google.com]

Koch Medicine Advances in neonatal care : official journal of the National Association of Neonatal Nurses 2014 A case of nonlethal neonatal Escobar is reported in a 35-week-and-6-day old infant who presented in utero with decreased fetal movement, oligohydramnios [semanticscholar.org]

• Disability

  " (Technology Related Assistance for Individuals with Disabilities Act, 1988, Sta. ‎ 162 ページ - Higginbottom MC, Jones KL, Hall BD, Smith DW. 1979. [books.google.com]

  Clin Genet 95: 607-614 Aoyagi K, Rossignol E, Hamdan FF, Mulcahy B, Xie L, Nagamatsu S, Rouleau GA, Zhen M, Michaud JL (2015) A Gain-of-Function Mutation in NALCN in a Child with Intellectual Disability, Ataxia, and Arthrogryposis. [fundacionlibellas.org]

  Adenosine deaminase deficiency Adrenoleukodystrophy Adult syndrome Aicardi Goutieres Syndrome Aicardi-Goutières syndrome Alagille syndrome Albright syndrome Alpha thalassemia Alpha-1 antitrypsin deficiency Alpha-thalassemia syndrome X-linked intellectual disability [igenomix.us]

  Autosomal dominant: multiple pterygia (with or without general learning disability). Other syndromes: Freeman-Sheldon syndrome. Osteochondrodysplasias. Chromosomal disorders. Cerebro-oculo-facial skeletal syndrome. [patient.info]

  Common features include a cleft in the lip or palate, abnormal facial features, limb or skeletal abnormalities, intellectual disability and delayed growth and development. [centogene.com]

• Anemia

  1 2 Diamond-Blackfan Anemia 10 2 Diamond-Blackfan Anemia 11 2 Diamond-Blackfan Anemia 12 2 Diamond-Blackfan Anemia 3 2 Diamond-Blackfan Anemia 4 2 Diamond-Blackfan Anemia 5 2 Diamond-Blackfan Anemia 6 2 Diamond-Blackfan Anemia 7 2 Diamond-Blackfan Anemia [preventiongenetics.com]

  […] nephrotic syndrome with focal segmental hyalinosis Familial isolated arrhythmogenic right ventricular dysplasia Familial isolated dilated cardiomyopathy Familial mediterranian fever Familial spastic paraplegia Family thoracic aortic aneurysm Fanconi Anemia [igenomix.us]

  The disorder is characterized by bruising, fatigue, anemia, low blood platelet count and enlargement of the liver and spleen, and is caused by a hereditary deficiency of the enzyme glucocerebrosidase (also known as … Previous 1 2 3 4 ... 7 Next Last [checkrare.com]

  […] type 15 with mandibulofacial dysostosis RPS28 Diamond-Blackfan anemia type 14 with mandibulofacial dysostosis TSR2 DiGeorge syndrome TBX1 Donnai-Barrow syndrome LRP2 DOOR syndrome TBC1D24 Duane Retraction syndrome SALL4 Dysmorphism, HMG20B related HMG20B [centogene.com]

  Pseudoautosomal OMIM:400021 Lymphoma, Hodgkin, Y-Linked Pseudoautosomal OMIM:137245 Lymphoma, Mucosa-Associated Lymphoid Type OMIM:605027 Lymphoma, Non-Hodgkin, Familial OMIM:247800 Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia [informatics.jax.org]

• Heart Disease

  Choroideremia Chronic granulomatosis Citrullinemia Cleidocranial dysostosis Clouston syndrome COFS syndrome Cohen syndrome Combined oxidative phosphorylation deficiency Congenital adrenal hyperplasia Congenital cataracts Congenital cerebellar ataxia congenital heart [igenomix.us]

  ECE1 Hirschsprung disease EDN3 Hirschsprung disease EDNRB Hirschsprung disease KIF1BP Hirschsprung disease NRG1 Hirschsprung disease NRTN Hirschsprung disease RET Hirschsprung disease ZEB2 Hirschsprung disease, type 3, susceptibility to GDNF Holoprosencephaly [centogene.com]

  0, Liver 3 Glycogen Storage Disease 0, Muscle 2 Glycogen Storage Disease Of Heart, Lethal Congenital 4 Glycogen Storage Disease Type Ia 3 Glycogen Storage Disease Type Ib 3 Glycogen Storage Disease Type Ic 3 Glycogen Storage Disease Type II 10 Glycogen [preventiongenetics.com]

• Hypertension

  Primary, Autosomal Recessive 2 1 Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis 2 Hypobetalipoproteinemia 1 Hypocalcemia, autosomal dominant 4 Hypocalcemia, autosomal dominant 2 2 Hypocalciuric Hypercalcemia, Familial, Type III [preventiongenetics.com]

• Muscle Weakness

  Variants in EGR2 or MPZ genes (MIM159440, MIM129010) can lead to early onset of hypotonia, areflexia, distal muscle weakness, very slow nerve conduction velocities and hypomyelination process. 2, 3 MPZ (Myelin Protein Zero) is the major structural protein [nature.com]

  Amyoplasia is characterized by severe joint contractures and muscle weakness while distal arthrogryposis mainly involves the hands and feet. [blueprintgenetics.com]

  Tajsharghi H, Kimber E, Holmgren D, Tulinius M, Oldfors A (2007) Distal arthrogryposis and muscle weakness associated with a beta-tropomyosin mutation. Neurology 68: 772–775. pmid:17339586 View Article PubMed/NCBI Google Scholar 9. [journals.plos.org]

  Congenital, 1 1 Fibrosis Of Extraocular Muscles, Congenital, 2 2 Fibrosis Of Extraocular Muscles, Congenital, 3A, With Or Without Extraocular Involvement 2 Fibular Hypoplasia And Complex Brachydactyly 1 Finnish Congenital Nephrotic Syndrome 2 Fish-Eye [preventiongenetics.com]

• Foot Deformity

  However, foot deformities were noticed and can be considered as a minor sign of arthrogryposis. Motor nerve conductions were markedly decreased in all patients. [nature.com]

  It can also reduce and stabilise dislocated hips, correct foot deformities and stabilise spinal deformities. [patient.info]

• Ectopia Lentis

  lentis, severe myopia, retinal detachment, glaucoma -lead to severe limitation of visual acuity or total blindness No ocular defects Ectopia lentis Ears Crumpled, 'cabbage leaf like' ears No ear abnormalities Hands Arachnodactyly Arachnodactyly (more [fetalultrasound.com]

  Ectopia lentis is very rare in CCA, but general ocular complications are estimated to be present in 20% of patients with CCA [ 2 ]. [ojrd.biomedcentral.com]

  lentis et pupillae 1 Ectopia Lentis, Isolated Autosomal Recessive 1 Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3 3 EDICT Syndrome 1 Ehlers-Danlos Syndrome with Progressive Kyphoscoliosis, Myopathy, and Hearing Loss 3 Ehlers-Danlos [preventiongenetics.com]

• Reduced Fetal Movement

  The basic cause is fetal akinesia (reduced fetal movements). The underlying cause can be environmental (lack of ability to move) or genetic (single gene conditions). [patient.info]

  Polyhydramnios with reduced fetal movements is followed by premature delivery at around 31 weeks gestation. [thedoctorsdoctor.com]

• Confusion

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

  Confusion has arisen because the term was used as a diagnosis. The term is descriptive, and the presence of congenital contractures only indicates a clinical sign with multiple underlying causes. [mhmedical.com]

  […] mouth, facultative camptodactyly Type VIII (Dominant pterygium syndrome) - Multiple pterygium, finger contractures Type IX (congenital contractual arachnodactyly, Beals syndrome) - Ear deformity, finger contractures Bony fusion This is likely to be confused [emedicine.medscape.com]

• Tremor

  Non-invasive Brain Stimulation for Essential Tremor. Tremor Other Hyperkinet Mov (N Y). 2017; 7:458. PMID: 28373927. Horn A, Kühn AA, Merkl A, Shih L, Alterman R, Fox M. [connects.catalyst.harvard.edu]

  Malabsorption, Hereditary 3 Follicle-Stimulating Hormone Deficiency, Isolated 6 Foveal Hypoplasia 2, with or without Optic Nerve Misrouting and/or Anterior Segment Dysgenesis 1 Foveal Hypoplasia And Presenile Cataract Syndrome 3 Fragile X Syndrome 4 Fragile X Tremor [preventiongenetics.com]

• Abnormal Gait

  Gait 3 Mental Retardation-Hypotonic Facies Syndrome X-Linked, 1 4 Merosin Deficient Congenital Muscular Dystrophy 5 Metachondromatosis 1 Metachromatic Leukodystrophy 2 Metaphyseal Anadysplasia 2 1 Metaphyseal Chondrodysplasia, Jansen Type 1 Metaphyseal [preventiongenetics.com]

Sclerodera Workup. Medscape. Available online at http://emedicine.medscape.com/article/331864-workup. Accessed September 2013. Scleroderma: An Overview. Cleveland Clinic. [labtestsonline.it]

Management and treatment Currently, there is no curative therapy, but supportive treatment can dramatically improve the quality of life of patients with UCMD. [orpha.net]

It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care. Our staff consists of biologists and biochemists that are not trained to give medical advice . [uniprot.org]

Treatment of newborn focuses on whether only limbs are affected or if there are abnormalities of nervous or muscular systems. Treatment for isolated joint abnormalities begins with plaster casts in newborn period. [mhmedical.com]

Current treatments available for scleroderma patients. Scleroderma Research Foundation. Available online at http://www.srfcure.org/for-patients/current-treatments. Accessed September 2013. Dental Care in Scleroderma. Scleroderma Foundation. [labtestsonline.it]

Prognosis Prognosis depends on the underlying cause but most have a normal lifespan. If, however, there is a central nervous system problem in addition, about half of patients die in the first year. [patient.info]

Prognosis UCMD is a severe progressive disorder. Most patients are unable to walk or manage to walk for only a short period of time, usually before puberty. Children can stand and walk with the aid of leg splints. [orpha.net]

Prognosis The prognosis for these patients is variable and depends on the underlying cause. [childneurologyfoundation.org]

Self: 6.5% 10.8% 10.4% 5.7% 6.8% Estimated RR when knowns excluded Parents: 4.7% 1.4% 7% 3% 46 If and only if a specific. diagnosis cannot be made If and only if a specific diagnosis cannot be made should a 5% recurrence risk estimation be given 47 Prognosis [slideplayer.com]

Sheldon syndromeFreeman Sheldon syndrome  Escobar syndromeEscobar syndrome  Beal syndromeBeal syndrome  Diastrophic dysplasiaDiastrophic dysplasia 13. 03/13/14 sitanshu TreatmentTreatment  Most children have good prognosisMost children have good prognosis [slideshare.net]

GROUPING Muscle Tendon length & placement Peripheral nerve and end plate CNS function Bone Limiting space Maternal illness, medications or trauma Vascular disruption 16 ARTHORGRYPOSIS ETIOLOGIC GROUPING - 1 Muscle (myopathies, and distal arthrogryposes [slideplayer.com]

Etiology UCMD is caused by mutations in the genes coding for the alpha chains of collagen VI ( COL6A1, COL6A2, and COL6A3 ) and is transmitted in an autosomal recessive manner. [orpha.net]

The phenotype suggests a spinal cord neuropathic etiology. Sequence similarities Belongs to the protein kinase superfamily. Tyr protein kinase family. EGF receptor subfamily. Contains 1 protein kinase domain. [abcam.com]

The etiology for the early cases was attributed to neuromuscular disease, with deformations owing to weakness or paralysis of the motor unit [4]. [wikigenes.org]

Hall JG: Arthrogryposis multiplex congenita: Etiology, genetics, classification, diagnostic approach and general aspects. J Pediatr Orthoped Part B 1997;6:159–166. [karger.com]

Analytical, diagnostic and therapeutic context of LCCS1 Lethal congenital contracture syndrome (LCCS) and other lethal arthrogryposes in Finland--an epidemiological study [6]. [wikigenes.org]

Summary Epidemiology In total, 47 foetuses with LMPS have been reported in 28 families. Of these cases, 28 foetuses were male and 19 were female. Fourteen of the 28 families had affected males only, including five with multiple affected males. [orpha.net]

Relevant External Links for GLE1 Genetic Association Database (GAD) GLE1 Human Genome Epidemiology (HuGE) Navigator GLE1 Atlas of Genetics and Cytogenetics in Oncology and Haematology: GLE1 No data available for Genatlas for GLE1 Gene Mutations in mRNA [genecards.org]

0-76409-6 29.00 € 2,321.18 ₨ Congenital Chevalier Jackson syndrome Congenital cricopharyngeal achalasia Medicine LAP LAMBERT Academic Publishing (2016-06-27) - ISBN-13: 978-3-659-91187-3 35.90 € 2,873.46 ₨ Inheritance of Congenital Blindness Genetic Epidemiological [morebooks.de]

Given this strong pathophysiology heterogeneity, a molecular diagnosis is often lacking. 1 In early and severe cases, fetal akinesia can manifest by arthrogryposis. [nature.com]

This directly contrasts with the previously proposed LCCS1 pathophysiological mechanism ( Nousiainen et al., 2008 ). [dev.biologists.org]

Prevention Genetic advice may be essential to prevent arthrogryposis. Extrinsically derived contractures have a low recurrence risk but the recurrence risk for intrinsically derived contractures depends on the aetiology. [patient.info]

Feeding by gastrostomy, surgical release of the contractures and surgery to prevent progression of scoliosis may be needed. It has recently been shown that UCMD patients may benefit from cyclosporin A. [orpha.net]

Early intervention for scoliosis can prevent morbidity later in life. Cardiac evaluation and ophthalmologic evaluations are recommended. [ojrd.biomedcentral.com]

Less muscle and less calcification of bone means less weight Avoid obesity – makes for more work Some limbs grow even less normally (like post-polio) 42 CHALLENGES – Not miss opportunities Stretching, weight bearing Avoid muscle atrophy, night splints Prevention [slideplayer.com]