Edit concept Question Editor Create issue ticket

Arthrogryposis-Renal Dysfunction-Cholestasis Syndrome

ARC Syndrome


Presentation

  • In addition, our case is the first case presented with congenital lower limb anomaly. One of the most common manifestations of ARC syndrome is arthrogryposis which was present at birth in our case.[gmj.ir]
  • Clinical description 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.[rarediseases.info.nih.gov]
  • Hence we conclude that there is large spectrum of clinical presentation, early identification of this disorder aid to customise treatment, no major response to current treatment strategies, counselling of the parents regarding the present child as well[casereports.in]
  • Acronym ARCS2 Synonyms Arthrogryposis renal dysfunction and cholestasis 2 Disclaimer Any medical or genetic information present in this entry is provided for research, educational and informational purposes only.[uniprot.org]
  • [More] We report a case of a term baby presenting with neonatal cholestasis and upper limb flexion deformity on day 4 of life.[gulfdoctor.net]
Suggestibility
  • Electrophoretic mobility shift assays suggest that this regulation occurs through direct binding of vHnf1 to the vps33b promoter.[ncbi.nlm.nih.gov]
  • It also suggests connections to tuberculosis (TB): a hard-to-treat bacterial illness that the World Health Organization calls "a top infectious disease killer worldwide."[news-medical.net]
  • Ultrasound of sacral region suggested a blind sinus. 2D Echo, brainstem enhanced response audiometry and MRI brain of child was normal.[casereports.in]
  • Arthrogryposis multiplex congenita-whistling face syndrome has been suggested to be a fetal akinesia deformation sequence.[orpha.net]
  • Her diethyliminodiacetic acid scan (DIDA) scan showed no excretion of radiotracer after 24 h and was suggestive of extra-hepatic stasis [Figure 4].[sjkdt.org]

Treatment

  • As there is no specific effective treatment for renal dysfunction and cholestasis, orthopaedic intervention should be postponed until long-term survival is expected, though this is unlikely.[ncbi.nlm.nih.gov]
  • Management and treatment There is no specific treatment for the disease.[rarediseases.info.nih.gov]
  • Readers will come away with a full overview of the diagnosis and treatment of cholestatic liver diseases.[books.google.com]
  • Review the latest developments in the field and get up-to-date clinical information on hot topics like polyps, capsule endoscopy, and pancreatic treatments.[books.google.com]
  • Treatment and management varies based on the case, though in general, there is no specific treatment for this syndrome. Description Last Updated: Jan 27, 2018[diseaseinfosearch.org]

Prognosis

  • Prognosis Most patients die within the first year of life despite supportive care for metabolic acidosis and cholestasis and those surviving longer show cirrhosis and severe developmental delay. Last updated: 6/5/2010[rarediseases.info.nih.gov]
  • Prognosis - Arthrogryposis renal dysfunction cholestasis syndrome Not supplied. Treatment - Arthrogryposis renal dysfunction cholestasis syndrome Not supplied. Resources - Arthrogryposis renal dysfunction cholestasis syndrome[checkorphan.org]
  • What is the prognosis? In a child with normal intelligence, with appropriate treatment, independent ambulation and function can be expected.[orthoseek.com]
  • The prognosis of this disorder is extremely poor, as patients die in infancy. Most deaths are due to recurrent infection, acidosis and critical bleeding [ 2 ].[casereports.in]
  • Prognosis depends on the specific etiology of the contractures The incidence of abnormal joint contractures and other accompanying malformations in eight patients observed with three-dimensional ultrasonography are described[elsevier.es]

Etiology

  • Etiology Mutations in the VPS33B gene (15q26.1), involved in intracellular protein trafficking and membrane fusion, have been found in 75% of ARC families, as well as mutations in the VIPAR gene (C14ORF133), encoding a protein that complexes with VPS33B[rarediseases.info.nih.gov]
  • Etiology The Pena-Shokeir syndrome is not a unitary entity but is etiologically heterogeneous. Maternal myasthenia gravis has been diagnosed in some cases, and experiments in animal models show that curarization of the mother induces fetal akinesia.[orpha.net]
  • It is the purpose of this review to summarize and update what is known about the etiology, diagnosis, natural history, and orthopaedic management of children with these diagnoses.[doi.org]
  • Abstract Arthrogryposis, or multiple congenital contractures, is the occurrence of joint contractures of diverse etiology in the prenatal period.[elsevier.es]
  • Etiological classification of arthrogryposis syndrome). Kovaleski, who has arthrogryposis, or brittle joints, at a campaign rally last year.[thefreedictionary.com]

Epidemiology

  • Epidemiology The prevalence is unknown but less than 100 patients have been reported in the literature so far.[rarediseases.info.nih.gov]
  • Summary Epidemiology The syndrome is rare: about 100 cases have been described in the literature. About 30% are stillborn, and the majority of those live-born die of the complications of pulmonary hypoplasia.[orpha.net]
  • Epidemiology Prevalence ist still unknown. About 100 cases are published so far. Systematic References: 1.[moldiag.com]
  • Lethal congenital contracture syndrome (LCCS) and other lethal arthrogryposes in Finland--an epidemiological study. Am J Med Genet A. 2006 Sep 1. 140A(17):1834-9. [Medline]. Lin IW, Chueh HY, Chang SD, Cheng PJ.[emedicine.medscape.com]
Sex distribution
Age distribution

Pathophysiology

  • They have expanded their research programme to look at mechanisms which control the development of biliary epithelial cells, the underlying mechanisms for the pathophysiology of malnutrition in children with liver disease and the natural history and management[books.google.com]
  • […] characterized by multiple joint contractures found throughout the body at birth. [1] The designation is currently used in connection with a very heterogeneous series of disorders that all include the common feature of multiple congenital joint contractures. [2] Pathophysiology[emedicine.medscape.com]

Prevention

  • Prevention - Arthrogryposis renal dysfunction cholestasis syndrome Not supplied. Diagnosis - Arthrogryposis renal dysfunction cholestasis syndrome Not supplied. Prognosis - Arthrogryposis renal dysfunction cholestasis syndrome Not supplied.[checkorphan.org]
  • Thus, the diagnosis of this syndrome requires a careful evaluation of the venal function in cases of congenital arthrogryposis, and a mandatory genetic counseling of affected family for prevention of familial occurance.[chikd.org]
  • The syndrome is also associated with recurrent infections and sepsis, the latter of which the Centers for Disease Control and Prevention describes as an "overwhelming and life-threatening response to infection."[news-medical.net]
  • […] phosphorous. [9] On the other hand, decreased citrate excretion ultimately leads to decreased luminal citrate, nephrocalcinosis and metabolic bone disease, which is a universal finding in distal RTA (DRTA), unless early base therapy is instituted for prevention[sjkdt.org]

Ask Question

5000 Characters left Format the text using: # Heading, **bold**, _italic_. HTML code is not allowed.
By publishing this question you agree to the TOS and Privacy policy.
• Use a precise title for your question.
• Ask a specific question and provide age, sex, symptoms, type and duration of treatment.
• Respect your own and other people's privacy, never post full names or contact information.
• Inappropriate questions will be deleted.
• In urgent cases contact a physician, visit a hospital or call an emergency service!