Arthrogryposis, Renal Dysfunction, and Cholestasis 1

Alternative Names

  • ARCS1
  • ARC Syndrome
  • ARCS
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WHO-ICD-10 version:2010

Congenital malformations, deformations and chromosomal abnormalities

Other congenital malformations

OMIM Number

208085

Mode of Inheritance

Autosomal recessive

Gene Map Locus

15q26.1

Description

Arthrogryposis-renal dysfunction-cholestasis (ARC) syndrome is a multisystem disorder characterised by abnormalities of the renal, hepatic, musculoskeletal and central nervous system. The clinical features of ARC syndrome include arthrogryposis, renal tubular acidosis, and neonatal cholestatic jaundice.  Additional symptoms may present, such as ichthyosis, platelet anomalies, agenesis of the corpus callosum, deafness, recurrent infection, and internal bleeding owing to coagulation dysfunction.

Homozygous or compound heterozygous mutations in the VPS33B gene is known to cause ARC1.

Epidemiology in the Arab World

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Subject IDCountrySexFamily HistoryParental ConsanguinityHPO TermsVariantZygosityMode of InheritanceReferenceRemarks
208085.1.1PalestineUnknownYes Renal Fanconi syndrome; Reduced number ...NM_018668.4:c.403+1G>AHomozygousAutosomal, RecessiveGissen et al. 2006 Patient from pedigre...
208085.1.2PalestineUnknownYes Renal Fanconi syndrome; Failure to thri...NM_018668.4:c.403+1G>AHomozygousAutosomal, RecessiveGissen et al. 2006 Relative of 208085.1...
208085.1.3PalestineUnknownYes Renal Fanconi syndrome; Nephrogenic dia...NM_018668.4:c.403+1G>AHomozygousAutosomal, RecessiveGissen et al. 2006 Relative of 208085.1...
208085.2Saudi ArabiaUnknownYes Renal Fanconi syndrome; Nephrogenic dia...NM_018668.4:c.1406-2A>GHomozygousAutosomal, RecessiveGissen et al. 2006 Patient from pedigre...
208085.3Saudi ArabiaUnknownYes Renal Fanconi syndrome; Nephrogenic dia...NM_018668.4:c.350delHomozygousAutosomal, RecessiveGissen et al. 2006 Patient from pedigre...
208085.4.1Saudi ArabiaMaleYes Fetal distress; Cutis laxa; Ichthyosis...NM_018668.4:c.700+1G>A, NM_018668.4:c.1312C>THeterozygousAutosomal, RecessiveTaha et al. 2007 Compound heterozygou...
208085.5LebanonUnknownYes CholestasisNM_018668.5:c.1019dupHomozygousAutosomal, RecessiveJalkh et al. 2019

Other Reports

Lebanon

Mikati et al. (1984) reported two Lebanese siblings (male) with ARC syndrome. Several characteristic features of the syndrome were observed, such as proximal renal tubular insufficiency, cholestatic jaundice, and multiple congenital anomalies. The patients had micrognathia, low set ears, high arched palate, barrel shaped chest, bilateral simian creases, club feet, congenital hip dislocation, hypotonia, conjugated hyperbilirubinemia and severe failure to thrive. The infants were reported to have died at the ages of 2 and 4 months. In a letter written by Mikati in 2007, he emphasized that the two Lebanese patients had severe right ventricular hypertrophy identified through electrocardiography, in addition to immune deficiency and ichthyosis.

Saudi Arabia

Abu-Sa’da et al. (2005) reported two unrelated Saudi infants with ARC syndrome. The first patient was an infant boy born to first degree cousins, who shortly after birth, suffered from jaundice, diarrhea and failure to thrive. He had multiple blood disorders, febrile illness, dehydration and metabolic acidosis, until the age of seven months when he died. The second patient was a female infant, also born to first cousin parents. At birth, she had fracture of her right femur, developmental dysplasia of hips and severely ichthyotic skin. Other conditions included metabolic acidosis and Fanconi syndrome, jaundice, and recurrent sepsis. She was hospitalized at the age of three months, where she was observed to be febrile, hypotensive, and severely dehydrated. She died on the second day with sepsis and irreversible shock.

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