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  • An autosomal recessive syndrome due to mutation(s) in the RAB23 gene, encoding RAB23, member of the RAS oncogene family and the MEGF8 gene, encoding multiple EGF like domains 8. This condition is characterized by growth failure and craniosynostosis leading to acrocephaly, brachydactyly with syndactly, congenital heart defects, hypogonadism, and obesity. *Check with Liz about this phrasing. Something seems off to me about this, but as this is her expertise not mine, I shall defer to her.
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