This case presents all defining features of ARC syndrome (including liver, skin and articular manifestations) with predominantly renal impairment at presentation. This novel mutation may be associated with a pronounced renal phenotype in ARC. [ncbi.nlm.nih.gov]

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]

In addition, several texts present aspects of developmental, fetal and placental pathology. [books.google.com]

The documents contained in this web site are presented for information purposes only. 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]

• Multiple Congenital Anomalies

  Mikati MA, Barakat AY, Sulh HB, Der Kaloustian VM (1984) Renal tubular insufficiency, cholestatic jaundice and multiple congenital anomalies, a new multisystem syndrome. Helv Paediatr Acta 39:463–471 PubMed Google Scholar 7. [doi.org]

  Mikati MA et al. (1984) Renal tubular insufficiency, cholestatic jaundice, and multiple congenital anomalies--a new multisystem syndrome. [^] 10. [moldiag.com]

  Renal tubular insufficiency, cholestatic jaundice, and multiple congenital anomalies�a new multisystem syndrome. Hely Paediatr Acta. 1984; 39: 463 � 471. [ams.ac.ir]

• Pathologist

  However, for the specialist paediatric pathologist with a significant paediatric surgical specimen workload, and for the practising general surgical pathologist faced with reporting paediatric surgical specimens, although information regarding many of [books.google.com]

• Hip Dislocation

  Staheli LT, Chew DE, Elliott JS, Mosca VS (1987) Management of hip dislocations in children with arthrogryposis. J Pediatr Orthop 7: 681–685 PubMed Google Scholar 35. [doi.org]

  All patients showed musculoskeletal symptoms and/or signs, which included vertical talus (7 feet, 4 patients), pes calcaneovalgus (4 feet, 3 patients), hip dislocation (6 hips, 3 patients), pathologic fractures (5 fractures in 5 patients), and rigid kyphosis [ncbi.nlm.nih.gov]

  dislocation Dislocated hips Dislocation of hip [ more ] 0002827 Low-set, posteriorly rotated ears 0000368 Lymphedema Swelling caused by excess lymph fluid under skin 0001004 Polyhydramnios High levels of amniotic fluid 0001561 Scoliosis Abnormal curving [rarediseases.info.nih.gov]

• Flexion Contracture

  contracture of knee Congenital generalized flexion contractures of lower limb joints Congenital muscular dystrophy with arthrogryposis multiplex congenita Congenital neuropathy with arthrogryposis multiplex congenita Congenital short trunk Congenital [icd9data.com]

  The positive prognostic factors for walking abilities were active hips and knees, hip flexion contracture less than 20° and knee flexion contracture less than 15° without severe scoliosis. [doi.org]

  Other positive prognostic factors for independent walking were active hips and knees, hip flexion contractures of less than 20 degrees and knee flexion contractures less than 15 degrees without severe scoliosis. Arthrogryposis is a rare condition. [en.wikipedia.org]

  Elbow contractures [ more ] 0002987 Hand clenching Clenched hands 0001188 Hip contracture 0003273 Knee flexion contracture 0006380 Scoliosis Abnormal curving of the spine 0002650 Single transverse palmar crease 0000954 Stiff shoulders 0009742 Trismus [rarediseases.info.nih.gov]

  He also had dry and scaly skin, jaundice and flexion contracture in both upper and lower extremities (figure 2). [gmj.ir]

• Muscular Atrophy

  […] spinal muscular atrophy Arthrogryposis spinal muscular atrophy arthrogryposis syndrome Arthrogryposis, distal, type 1 Arthrogryposis, distal, type 1 Arthrogryposis, distal, type 1 arthrogryposis, distal, type 1A Arthrogryposis, distal, type 2B Arthrogryposis [medical-dictionary.thefreedictionary.com]

  […] renal dysfunction cholestasis syndrome Arthrogryposis renal dysfunction cholestasis syndrome Arthrogryposis renal dysfunction cholestasis syndrome Arthrogryposis spinal muscular atrophy Arthrogryposis spinal muscular atrophy Arthrogryposis spinal muscular [acronyms.thefreedictionary.com]

  In addition, dimorphisms, recurrent infections, platelet dysfunction, growth retardation, nephrogenic diabetes insipidus, muscular atrophy, corpus callosum agenesis and rarely deafness are among the other findings described [4]. [ijcasereportsandimages.com]

  X-linked spinal muscular atrophy type 2 [en.wikipedia.org]

  Sarah Bundey, Spinal muscular atrophies (SMAs), Genetics and Neurology, 10.1016/B978-0-443-02818-2.50015-3, (172-193), (1985). Pieter J. [doi.org]

• Muscle Weakness

  It manifests as limitation of movement of multiple limb joints at birth that is usually non-progressive and may include muscle weakness and fibrosis. [orpha.net]

  "Exoskeletons are devices that are supposed to help people move, so for children who have muscle weakness due to a variety of problems like pre-term birth," said Lobo. "They often need devices to lift their arms against gravity." [web.archive.org]

  Hannah was born with the neuromuscular disease arthrogryposis, which makes her joints curve and muscles extremely weak. She can't lift her arms very high without help. [cnn.com]

  Amyoplasia is characterized by severe joint contractures and muscle weakness. Distal arthrogryposis mainly involves the hands and feet. Types of arthrogryposis with a primary neurological or muscle disease belong to the syndromic group. [en.wikipedia.org]

• Myopathy

  Those could be: dystrophy, myopathy and mitochondrial disorders. [en.wikipedia.org]

  Genetic conditions sometimes associated with AMC include some connective tissue disorders ; muscle disorders such as muscular dystrophies or congenital myopathies ; and certain mitochondrial disorders. [2] Depending on the underlying genetic cause, it [rarediseases.info.nih.gov]

  Histological investigation did not provide evidence of a demyelinating or axonal neuropathy or a myopathy (see below). [ncbi.nlm.nih.gov]

• Stroke

  Multiple myosin II molecules generate force in skeletal muscle through a power stroke mechanism fuelled by the energy released from ATP hydrolysis, the power stroke occurs at the release of phosphate from the myosin molecule after the ATP hydrolysis while [wikivisually.com]

  The WREX is a potential assistive device and therapy aid for rehabilitating people with conditions such as stroke, spinal cord injury, and cerebral palsy. [rehab.research.va.gov]

Zhou and Zhang Italian Journal of Pediatrics 2014, 40:77 Page 6 of 7 http://www.ijponline.net/content/40/1/77 Diagnostic clues and workup after the surgery, and his scaly skin was also normal in In general, case reports of patients with ARC syndrome 6 [anyflip.com]

Management and treatment There is no specific treatment for the disease. [rarediseases.info.nih.gov]

This case report contributes to a better understanding of this rare disorder, describes a novel mutation in the VPS33B gene and presents an innovative rescue treatment approach. [ncbi.nlm.nih.gov]

In a child with normal intelligence, with appropriate treatment, independent ambulation and function can be expected. [orthoseek.com]

Readers will come away with a full overview of the diagnosis and treatment of cholestatic liver diseases. [books.google.com]

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]

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]

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]

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]

Abstract Arthrogryposis, or multiple congenital contractures, is the occurrence of joint contractures of diverse etiology in the prenatal period. [elsevier.es]

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]

Arthrogryposis in children: Etiological assessments and preparation of a protocol for etiological investigations. Arch Pediatr. 2018 Jun 15. [Medline]. Hall JG. [emedicine.medscape.com]

Epidemiology The prevalence is unknown but less than 100 patients have been reported in the literature so far. [rarediseases.info.nih.gov]

Epidemiology Prevalence ist still unknown. About 100 cases are published so far. Systematic References: 1. [moldiag.com]

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]

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]

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 - 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]

Early in life, physical therapy to stretch contractures can improve the range of motion of affected joints and prevent muscle atrophy. Splits can also be used in combination with these stretching exercises. [rarediseases.info.nih.gov]