Ellis - van Creveld Syndrome

Some Australian Aborigines may have Dutch or German sailors amongst their ancestors. The incidence of Ellis-van Creveld Syndrome may have been introduced by Dutch shipwreck survivors.  Tantalizing evidence is the occurrence of a rare genetic disease: Ellis-van Creveld syndrome among Australian Aborigines. 

The most obvious symptom of which is polydactyl – having more than five fingers and toes. Documentary evidence has been found on both the west coast and the south-west corner of WA.  Conceivably, this may lead to the discovery of the Ridderschap van Holland, a ship that went missing in 1694/5.  The E-vC may provide the clue.

Ellis-van Creveld syndrome, also known as "chondroectodermal dysplasia," is a rare genetic disorder characterized by short-limb dwarfism, polydactyly (additional fingers or toes), malformation of the bones of the wrist, dystrophy of the fingernails, partial hare-lip, cardiac malformation, and often prenatal eruption of the teeth.

The gene causing Ellis-van Creveld syndrome, EVC, has been mapped to the short arm of chromosome 4. As yet, the function of a healthy EVC gene is not known; this is one of the most important questions that must be answered about the disease, since it would give an indication as to the molecular mechanism of the disease.

Ellis-van Creveld syndrome is often seen among the Old Order Amish community in Lancaster County, Pennsylvania. Because this group of people is small and isolated, it affords a rare opportunity to observe the passage of this particular disorder from generation to generation. A pattern of inheritance can be observed that has indicated the disease is autosomal-recessive (i.e. a mutated gene form both parents is required before the effects of the disease to become apparent).

Explorers such as Augustus Gregory, A.C. Gregory, George Fletcher Moore and social researcher Daisy Bates noticed European characteristics, with blonde hair and blue eyes amongst aborigines who had not previously had contact with Europeans.

  1. a b "Ellis–van Creveld syndrome". Genes and Diseases. NCBI. 1998. Retrieved November 8, 2010.
  2. ^ Ruiz-Perez VL, Ide SE, Strom TM, et al. (2000). "Mutations in a new gene in Ellis–van Creveld syndrome and Weyers acrodental dysostosis". Nat. Genet. 24 (3): 283–6. doi:10.1038/73508PMID 10700184.
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