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Lethal Congenital Contracture Syndrome 6


  • Acronym LCCS6 Any medical or genetic information present in this entry is provided for research, educational and informational purposes only.[uniprot.org]
  • 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]
  • With this goal in mind, the editors have taken great care to ensure that the presentation of complex clinical information is at once scientifically accurate, patient oriented, and accessible to readers without a medical background.[books.google.com]
  • 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]
  • " (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]
  • 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]
  • Epilepsy, Progressive Myoclonic 3 4 Epilepsy, Progressive Myoclonic 4, With Or Without Renal Failure 5 Epilepsy, Progressive Myoclonic 6 4 Epilepsy, Progressive Myoclonic 7 1 Epilepsy, Progressive Myoclonic, 9 1 Epilepsy, X-Linked, With Variable Learning Disabilities[preventiongenetics.com]
  • In 1953, Henry served as a resident at the University of Chicago and then 1955, he became a medical physician in the Navy during the end of the Korean War.[books.google.com]
Muscular Atrophy
  • Genetic causes Spinal muscular atrophy (SMA)-like Distal SMA type 1 Spinal muscular atrophy with respiratory distress type 1 Spinal muscular atrophy with respiratory distress type 2 Scapuloperoneal SMA X-linked SMA with arthrogryposis SMA-like with central[childneurologyfoundation.org]
  • Differential diagnosis In the neonatal period, the differential diagnoses include Bethlem myopathy and other forms of congenitalmuscular dystrophy (CMD) and myopathy, spinal muscular atrophy, forms of Ehlers-Danlos syndrome, and Marfan syndrome (see these[orpha.net]
  • The neuropathological findings in the LCCS closely resemble those of spinal muscular atrophy (SMA) [2]. A typical phenotype of LCCS fetuses consists of multiple joint contractures, distinct facial features, and hydrops [3].[wikigenes.org]
  • Atrophy Spinocerebellar ataxia spinocerebellar ataxia type 36 Spondylometaphyseal dysplasia Stargardt's Disease Steinert myotonic dystrophy Steroid resistant nephrotic syndrome Stickler syndrome type 1 Stuve-Wiedemann syndrome Synaptic congenital myasthenic[igenomix.us]
  • Spinal muscular atrophy (anterior horn cell disease of prenatal origin (SMA 0), not Werdnig-Hoffman (SMA 1). Congenital contracture syndrome (lethal). Cerebro-oculo-facial syndrome. Marden-Walker syndrome. Pena-Shokeir syndrome.[patient.info]
  • Affiliated tissues include skeletal muscle, and related phenotypes are macrocephaly and decreased fetal movement[malacards.org]
  • , Alopecia, Cutis Laxa, And Scoliosis 3 Macrocephaly/Autism Syndrome 3 Macrothrombocytopenia And Progressive Sensorineural Deafness 2 Macrothrombocytopenia, Autosomal Dominant, TUBB1-Related 2 Macular Corneal Dystrophy Type I 2 Macular Degeneration, Age-Related[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]
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]
Sadistic Personality Disorder
  • personality disorder A mental disorder Medicine FastBook Publishing (2013-01-02) - ISBN-13: 978-613-0-14770-9 49.00 3,921.99 Congenital Insensitivity to Pain with Anhidrosis Rare disease, Genetic disorder, Anhidrosis, Temperature Biology Flu Press (2012[morebooks.de]
  • Pyridoxal phosphate-responsive seizures Pyruvate carboxylase deficiency Rendu-Osler-Weber disease Retinitis Pigmentosa Retinoblastoma RhCE isoimmunization RhD isoimmunization Sandhoff disease Schaaf-Yang syndrome Schwannomatosis Sensory ataxic neuropathy - dysarthria[igenomix.us]
  • Familial Neonatal, 2 5 Seizures, Cortical Blindness, Microcephaly Syndrome 1 Sengers syndrome 3 Senior-Loken Syndrome 4 2 Senior-Loken Syndrome 5 5 Senior-Loken Syndrome 6 5 Senior-Loken Syndrome 7 4 Senior-Loken Syndrome 8 2 Sensory Ataxic Neuropathy, Dysarthria[preventiongenetics.com]


  • 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]
  • 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]
  • 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]
  • The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.[orpha.net]
  • Treatment includes radiation, chemotherapy, and possible surgery.[abcore.com]


  • 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]
  • 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]
  • 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]


  • 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 Less than 50 molecularly confirmed cases have been reported worldwide.[orpha.net]
  • 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]
  • 978-620-0-76409-6 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]
Sex distribution
Age distribution


  • 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]

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