Habsburg Family Deformities

 

Philip I of Castile (1478-1506)

Welcome to the second instalment in my series on royal families and the genetic disabilities that they passed down. If you found last week’s post on Tutankhamun interesting, then you are in for a real treat.

This week I will be examining the Spanish Habsburg dynasty, and particularly their last king, Charles II (1661-1700).

Before I begin, I must confess that this topic involves several numbers, as well as scientific studies, much of which went straight over my head.

 

Who were the Habsburgs with their jaw dropping looks?

The House of Habsburg was one of the most powerful royal families to exist in European History. They date back to the 11^th Century and ruled the Duchy of Austria up until 1918, when they apparently lost a war. It was not just a long period they ruled over, but also a vast territory. Throughout the centuries, they ruled (deep breath): Austria, Germany, The Holy Roman Empire, Bohemia, Hungary, Croatia, Spain, Portugal, as well as overseas territories such as Mexico. That is a lot of ground to cover, literally. Is it possible to cover several centuries of history, over more than one continent in the space of a few paragraphs? Not a chance! I would have to live for hundreds of years to attempt that feat.

Instead, I will look at a very specific aspect of one branch of the family. In 1496, Philip I, son of the Holy Roman Emperor, married Joanna of Castile and Aragon, which would later become Spain. Thus, the reign of the Spanish Habsburgs had begun! They would rule successfully for 200 years, until the death of the childless Charles II killed off the bloodline in 1700. I will be coming back to that later. Many of the Spanish Habsburgs shared the same facial characteristic known as the ‘Habsburg Jaw’. This consisted of a large protruding jaw, also known as mandibular prognathism. They also had overhanging noses and enlarged lips which are characteristics of maxillary deficiency. The combination of these deformities made it difficult for some Habsburg kings to even close their mouths.

 

Was the Habsburg Jaw a result of Inbreeding?

Researchers decided to investigate whether the Habsburg Jaw was a result of inbreeding or some other cause. That reminds me, I forgot to mention, that as the Habsburgs gained the Spanish throne through marriage, they were afraid that they would also lose it through marriage. I can picture the scene now, the Habsburg ruler sitting in his court, when suddenly a candle (they didn’t have lightbulbs) flickers above his head. He proudly declares to his courtiers, “To preserve our hold on our kingdoms, cousins shall marry cousins, and uncles shall marry nieces!!” In my head he then lets out an ominous laugh.

Anyway, the researchers were able to analyse how closely related various members of the Spanish Habsburgs were, using something they called the inbreeding coefficient. They examined 16 generations of the family and more than 3,000 individuals. The results showed that Philip I (1478-1506), also known as Philip the Handsome, had a score of 0.025. However, Charles II (1661-1700), who was anything but handsome, had a score of 0.254. To put that into context, the offspring of first cousins would have an inbreeding coefficient of 0.0625. Charles II’s score indicates that his parents were either brother and sister, or parent and child. However, this was not the case. His father, Philip IV of Spain, was the uncle of his mother, Mariana of Austria. The high inbreeding coefficient was a result of such relationships happening for 16 generations! Harmful genes therefore increased as time went by as there were no new genes to overcome them. The researchers ultimately found that the people with the most severe Habsburg Jaw, also had the highest inbreeding coefficient.

It is important to note that while inbreeding is taboo in Western culture, it is still a common practice in certain parts of the world.

 

Charles II of Spain (1661-1700)

Charles II

So, the Spanish Habsburgs were inbred, why is that in a blog post about disability history? Charles II, that’s why! Charles II of Spain lived with an array of physical and mental disabilities, dying childless at the premature age of 39. His nickname was El Hechizado (“The Hexed”), as many people, including Charles, believed that he was the subject of a curse. His jaw was so bad that it was said that his two sets of teeth did not meet and therefore, he could not chew, forcing him to swallow food whole. This wreaked havoc on his digestive system, and he had frequent bouts of vomiting and diarrhoea. He was described as having very little interest in his surroundings and was practically senile by the time he died. As indicated before, he was believed to be infertile, having no children from two marriages. He was also slow at developing, as he did not speak until the age of 4, and he could not walk until he was 8. It is now believed that two genetic disorders, combined pituitary hormone deficiency (CPHD, OMIM 26260) and distal renal tubular acidosis (dRTA, OMIM 602722), can explain most of his ailments. Other researchers suggest that he may have also lived with hydrocephalus as upon death, the coroner stated that his head was full of water. Whatever the case may be, it is clear that the history of inbreeding in his family severely impacted his life.

To keep up to date with my latest blog posts, you can like my Facebook page, or follow me on Twitter. You can find them by clicking the relevant icons in the sidebar.

Next week I will begin to examine the history of disabled people being used for entertainment purposes, starting with Ancient Rome.

 

                                                                                                 The Wheelchair Historian

 

Further Reading

Alvarez G, Ceballos FC, Quinteiro C (2009) The Role of Inbreeding in the Extinction of a European Royal Dynasty. PLoS ONE 4(4): e5174. https://doi.org/10.1371/journal.pone.0005174 Accessed: 25 September 2020.

Álvarez, G, Ceballos, FC, and ‘Royal dynasties as human inbreeding laboratories: the Habsburgs’ Heredity (2013) 111,114–121&2013 Macmillan Publishers Limited All rights reserved 0018-067X/13www.nature.com/hdy Accessed: 25 September 2020.

Dimuro, Gina, ‘The Habsburg Jaw And The Cost Of Royal Inbreeding’ Published June 20, 2018, Updated June 24, 2020 https://allthatsinteresting.com/habsburg-jaw Accessed: 25 September 2020.

Gregory, Andy, ‘Centuries of inbreeding to blame for ‘Habsburg jaw’ among European royals, study finds’, Monday 02 December 2019 12:31 https://www.independent.co.uk/news/science/habsburg-jaw-royal-family-inbreeding-facial-deformity-spain-austria-holy-roman-empire-a9229071.html Accessed: 25 September 2020.

Holloway, James, ‘Royal portraits confirm "Habsburg jaw" was caused by inbreeding’, December 02, 2019 https://newatlas.com/science/habsburg-jaw-inbreeding/ Accessed: 25 September 2020.

Saplakoglu, Yasemin, ‘Inbreeding Caused the Distinctive 'Habsburg Jaw' of 17th Century Royals That Ruled Europe’, December 02, 2019 https://www.livescience.com/habsburg-jaw-inbreeding.html Accessed: 25 September 2020.

Thompson, Andrea, ‘Inbreeding: Downfall of a Dynasty’, April 14, 2009 https://www.livescience.com/3504-inbreeding-downfall-dynasty.html Accessed: 25 September 2020.

Thulin, Lila, ‘The Distinctive ‘Habsburg Jaw’ Was Likely the Result of the Royal Family’s Inbreeding’, smithsonianmag.com, December 4, 2019, https://www.smithsonianmag.com/smart-news/distinctive-habsburg-jaw-was-likely-result-royal-familys-inbreeding-180973688/ Accessed: 25 September 2020.

Turliuc M, D, Cucu A, I, Perciaccante A, Tosolini G, De Luca S, Costachescu B, Costea C, F: ‘Hydrocephalus of King Charles II of Spain, the Bewitched King’. Eur Neurol 2019;81:76-78. doi: 10.1159/000500719 Accessed: 25 September 2020.

Yong, Ed, ‘How inbreeding killed off a line of kings’, April 14, 2009 https://www.nationalgeographic.com/science/phenomena/2009/04/14/how-inbreeding-killed-off-a-line-of-kings/ Accessed: 25 September 2020.

Tutankhamun's Ailments

 

This week I have decided to change things up a little. I am still looking at a historic figure, however, I am focusing on the closeness of their family.

Tutankhamun is perhaps the best known of the Egyptian pharaohs. He was the boy king whose death is surrounded by mystery, having died in c.1324 BCE, aged 19. His remains were discovered in 1922 by Howard Carter and the objects found in his tomb have become synonymous with Ancient Egypt. It is less well known that he lived with a series of disabling ailments.

Tutankhamun’s Illnesses

When scientists were able to properly examine Tut’s body, they discovered that he was riddled with disease and impairment during his lifetime. Starting at the head, he was found to have a cleft palate. Further down, his spine was curved which may have been very debilitating for him. However, worse was yet to come. Upon examining his feet, it was discovered that the left foot was badly deformed. Researchers identified this as Kohler’s disease or bone necrosis. This meant that the bones in his foot were dying, leading many scholars to believe that the 130 canes found in his tomb were used as mobility aids. If having a damaged foot was not bad enough, they also found traces of multiple strains of malaria tropica in his body. This is the deadliest form of malaria, and up until that point, nobody had found earlier proof of the disease. So, I think it is safe to say that he was not a healthy individual.

While these discoveries were surprising, researchers were able to dispel some bizarre myths about Tutankhamun’s appearance. During his reign and that of his father, Akhenaten, statues were created depicting them with feminine characteristics such as wide hips and breasts. This led some researchers to believe that they had the condition gynecomastia, which causes men to develop breasts. However, when their mummies were examined, no female characteristics were discovered. Instead, it is thought the depictions mimicked those of the god Aten, who Akhenaten worshipped.

Tutankhamun with Walking Stick

 

Why so many Ailments?

You are probably thinking ‘another disabled ruler? I though this post would be different’. Firstly, it is notoriously difficult to discover information about specific ordinary people, especially disabled people. Secondly, the way Tutankhamun obtained his conditions is what makes it fascinating….

Royal families are an unusual concept. One family ruling for generations, until they are either overthrown or die out. In Ancient Egypt, pharaohs were considered to be gods. As such, it was important to keep the blood line as pure as possible, i.e. not contaminate it with mortal blood. Can you see where I’m going with this yet? The ingenious solution they came up with was for brothers and sisters to marry each other!! That way the bloodline remained pure. Ironically, humans actually need diversity in the bloodline to stay healthy and thrive.

Where was I? Ah… incest. DNA analyses of 11 mummies including Tutankhamun undertaken between 2007 and 2009 indicated that Tutankhamun’s father was Akhenaten and his mother was a sister of Akhenaten. However, they have been unable to identify her. Just when you think it cannot get any stranger, it somehow does. Tutankhamun got married to his sister/half-sister Ankhesenamun, and unsurprisingly lost both their daughters while Ankhesenamun was pregnant.

An important aspect of inter-family marriage is that any flaws are accumulated and passed down the generations until someone (in this case Tutankhamun) is severely afflicted. The researchers who examined the mummies discovered that four of them, including Tut, were infected with malaria at some point in their lives. It is no wonder then that Tutankhamun was so sickly.

How did Tutankhamun Die?

Since the discovery of Tutankhamun’s tomb in 1922, there has been a debate as to what caused his death after ten years as pharaoh. Some of the most popular theories were: that he was murdered by a blow to the back of the head, he fell from his chariot at speed, or most gruesomely, he was run over by someone else’s chariot. People who believe this theory point to the fact that he was mummified with a broken leg. However, the researchers who carried out the DNA tests believe that it was nothing as exciting as these theories. Instead, they believe that unable to walk properly, he fell, possible from a carried chair and broke his leg. As he was sickly and ill with malaria, his body simply could not cope and he died.

What I find interesting is that his tomb appears to have been equipped with his impairments in mind. A pharaohs’ tomb was usually filled with items they could use in the afterlife. Along with 130 canes which he could use as mobility aides, the tomb was filled with several chairs and stools which are obviously useful for someone who struggles walking. Furthermore, there was an unusual amount of plants, the vast majority of which are known to have medicinal purposes. It has been thought that the tomb was rushed with little thought behind it. However, as it seemed to have the necessary equipment and medicine, I would tend to disagree.

What do you think? Did the people who arranged the tomb do so to assist with his impairments in the afterlife? Let me know in the comments.

 

To keep up to date with my latest blog posts, you can like my Facebook page, or follow me on Twitter. You can find them by clicking the relevant icons in the sidebar.

Next week, I will be examining another royal family, the Habsburgs.

 

                                                                                                  The Wheelchair Historian

 

Further Reading

Hamilton, Jon, ‘Frail And Sickly, King Tut Suffered Through Life’, February 16, 2010 4:00 PM ET, Heard on All Things Considered, https://www.npr.org/templates/story/story.php?storyId=123781211 Accessed: 18 September 2020.

Hawass, Zahi; Gad, Yehia Z.; Ismail, Somaia; et al., ‘Ancestry and Pathology in King Tutankhamun's Family’, JAMA. 2010;303(7):638-647 (doi:10.1001/jama.2010.121) http://jama.ama-assn.org/cgi/content/full/303/7/638 Accessed: 18 September 2020.

McCoy, Terrence, ‘The real King Tut revealed: Tutankhamun was many things, but handsome he was not’, Thursday 13 August 2015 00:28 https://www.independent.co.uk/news/world/africa/the-real-king-tut-revealed-tutankhamun-was-many-things-but-handsome-he-was-not-10452398.html Accessed: 18 September 2020.

Morris, Alexandra F., ‘Let that Be Your Last Battlefield: Tutankhamun and Disability’, Athens Journal of History - Volume 6, Issue 1, January 2020 – Pages 53-72.

Nuwer, Rachel, ‘Newest King Tut Theory: He Suffered Severe Disorders From Inbreeding’, smithsonianmag.com, October 22, 2014 https://www.smithsonianmag.com/smart-news/newest-king-tut-theory-he-suffered-severe-disorders-due-inbreeding-180953113/ Accessed: 18 September 2020.

Than, Ker, ‘King Tut Mysteries Solved: Was Disabled, Malarial, and Inbred’, National Geographic News ,February 17, 2010 https://www.nationalgeographic.com/news/2010/2/100216-king-tut-malaria-bones-inbred-tutankhamun/ Accessed: 18 September 2020.

Troup Buchanan, Rose, ‘King Tutankhamun did not die in chariot crash, virtual autopsy reveals’, Monday 20 October 2014 16:03 http://www.independent.co.uk/news/science/king-tutankhamun-did-not-die-in-chariot-crash-virtual-autopsy-reveals-9806586.html Accessed: 18 September 2020.

Wilson, Jacque, ‘King Tut's 'virtual autopsy' reveals surprises’, CNN, Updated 1139 GMT (1939 HKT) January 25, 2016 https://edition.cnn.com/2014/10/21/world/king-tut-visual-autopsy/index.html Accessed: 18 September 2020.