Other neonatal signs and symptoms include failure to thrive, hyperbilirubinemia, jaundice, facial dysmorphism, sensorineural deafness, joint contractures, ichthyosis, diarrhea, recurring infections, bleeding tendency, developmental delay, and abnormalities of the central nervous system.
Management includes treatment for cholestasis, metabolic acidosis, and related liver disorders. Prognosis is poor as most die during infancy.
For more information, see OMIM.
Q68.8 – Other specified congenital musculoskeletal deformities
62216007 – Familial arthrogryposis-cholestatic hepatorenal syndrome