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]

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]

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]

[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]

The classical presentation of ARC includes congenital joint contractures, renal tubular dysfunction, and cholestasis. Additional features include ichthyosis, central nervous system malformation, platelet anomalies, and severe failure to thrive. [unboundmedicine.com]

• Turkish

  Danish Dutch English Estonian Finnish French German Greek Hebrew Hindi Hungarian Icelandic Indonesian Italian Japanese Korean Latvian Lithuanian Malagasy Norwegian Persian Polish Portuguese Romanian Russian Serbian Slovak Slovenian Spanish Swedish Thai Turkish [dictionary.sensagent.com]

  (Trp155Glufs*4) Turkish [4] - [14] VIPAR_00022 6 c.484C > T Het p.(Arg162*) Italian [4] Turkish [4] VIPAR_00002 7 c.535C > T Hom p.(Gln179*) Croatian [4] Israel [4,14] VIPAR_00023 9 c.638 T > C Het p. [anyflip.com]

  In addition, there is one Turkish patient with the VPS33B gene mutation in literature. In this patient, renal Fanconi's syndrome, arthrogryposis, ichthyosis and recurrent infections have been reported. [ijcasereportsandimages.com]

• Internal Bleeding

  SNAREs are involved in a variety of recurrent infection, and internal bleeding owing to coagu- processes—including vesicular exocytosis, synaptic trans- lation dysfunction (see Table 1). [anyflip.com]

• High Arched Palate

  Additional features include severe failure to thrive, platelet dysfunction (which may be responsible for severe bleeding), facial dysmorphism (low set ears, lax skin, a high arched palate, beaked nose and small anterior fontanelle), diarrhea, recurrent [rarediseases.info.nih.gov]

  The face is expressionless, with hypertelorism, telecanthus and poorly folded, small, and posteriorly angulated ears, and the mouth is small with micrognathia and high-arched palate. Cleft palate and cardiac defects may occur occasionally. [orpha.net]

  The baby had a birth weight of 3.23 kg, and was noted to have a sloping forehead, small anterior fontanelle, a high arched palate, a low set posteriorly rotated left ear, and redundant skin folds in the neck. [adc.bmj.com]

  The baby had a high arched palate, redundant posterior skin folds in the neck, prominent occiput, and rocker bottom feet. [ams.ac.ir]

• Prominent Occiput

  The baby had a high arched palate, redundant posterior skin folds in the neck, prominent occiput, and rocker bottom feet. [ams.ac.ir]

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]

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. [unboundmedicine.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]

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 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]

Relevant External Links for VPS33B Genetic Association Database (GAD) VPS33B Human Genome Epidemiology (HuGE) Navigator VPS33B Atlas of Genetics and Cytogenetics in Oncology and Haematology: VPS33B No data available for Genatlas for VPS33B Gene Mycobacterium [genecards.org]

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]