Arthrogryposis multiplex with deafness, inguinal hernias, and early death

Arthrogryposis multiplex with deafness, inguinal hernias, and early death is a very rare "novel" genetic disorder that is characterized by arthrogryposis multiplex, congenital hearing loss, severe inguinal hernia, chronic diaphragmic contractions that resemble hiccups, and a failure to suck. It was first reported in 2005 by Christian Tiemann et al. when they described three male newborn babies that came from a heavily consanguineous Lebanese family, all of the affected newborns died before they were 3 months old due to respiratory failure. Post-mortem examinations revealed that all three infants had myopathic abnormalities and high levels of glycogen in the muscles. The babies' parents came from two siblinghoods: two brothers married two sisters which were related to both brothers as first cousins. This syndrome is suspected to be inherited in an X-linked or autosomal recessive fashion.