Megarbane-Jalkh syndrome is a new disorder characterised by developmental delay, facial dysmorphia, spontaneous neonatal fractures, wrinkling of the skin, hepatosplenomegaly and liver dysfunction, and abnormal thoracic configuration. Dysmorphic facial features may include frontal bossing, prominent eyes, downslanting palpebral fissures, hypertelorism, telecanthus, gum hypertrophy and a pointed chin.
Megarbane et al, 2008, reported two siblings from a consanguineous family affected by a combination of symptoms. These included axial hypotonia, developmental delay, wrinkled skin on the hands and abdomen, spontaneous neonatal fractures, facial dysmorphia, hirsutism and hepatosplenomegaly. Their health and liver function worsened each time they developed fever. The older sib died at 18 months of age due to liver failure. The authors considered the possibility of this being a new metabolic syndrome.