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Start free with EleplanArthrogryposis-renal dysfunction-cholestasis syndrome
ORPHA:2697Malformation syndrome
Also called ARC syndrome
What it is
A rare, multisystem disorder, characterized by neurogenic arthrogryposis multiplex congenita, renal tubular dysfunction and neonatal cholestasis with low serum gamma-glutamyl transferase activity.
Key facts
- Prevalence
- <1 / 1 000 000
- Age of onset
- Neonatal
- Inheritance
- Autosomal recessive
- Classified as
- Malformation syndrome
Prevalence figures describe populations, not individuals, and are often estimates from a single study. Where the figure is an incidence or a birth prevalence, it says so.
Signs and symptoms
Common30–79%
15- Abnormal alpha granules
- Abnormal platelet aggregation
- Abnormal platelet count
- Aplasia/Hypoplasia of the corpus callosum
- Chronic diarrhea
- Congenital bilateral hip dislocation
- Conjugated hyperbilirubinemia
- Hepatomegaly
- Hyperkeratosis
- Ichthyosis
- Intellectual disability
- Neonatal cholestatic liver disease
- Recurrent infections
- Renal Fanconi syndrome
- Renal tubular dysfunction
Sometimes5–29%
14- Cutis laxa
- Decreased fetal movement
- Hearing impairment
- Hypothyroidism
- Hypotonia
- Intrahepatic biliary atresia
- Low-set ears
- Microcephaly
and 6 more in this range
These ranges are how often a sign appears across everyone diagnosed, not a prediction for one person — most people have some of these and not others. Orphanet also records findings that are specifically absent in this disease; those are in the data but not listed here.
Genes
ICD-10 codes
Cross-references
Orphadata Science: Free access data from Orphanet. © INSERM 1999. Data version 2026-06-23. Available under CC BY 4.0. This is a reference, not medical advice.
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