Connective Tissue Disorders

Indecision is the key to flexibility.

A bumper sticker.

Connective tissue describes the structure surrounding and supporting cells found within tissues. This is composed of numerous proteins, mainly collagen, elastin and fibrillin.

Different mutations affecting collagen, the main structural protein and the most abundant protein in the body, can lead to Ehlers-Danlos syndrome and osteogenesis imperfecta.


Elastin, as the name describes, has a major elastic role in connective tissue allowing various tissues to resume its shape after stretching. Mutations disrupting this underlies cutis laxa and , characterised by loose skin, while abnormal, fibrillin, a protein important in supporting tissue elasticity leads to Marfan syndrome resulting in weakened joints among other symptoms.

Ehlers-Danlos Syndrome


Ehlers-Danlos syndrome, resulting from mutations in genes coding for particular types of collagens, leads to extremely loose joints and elasticity of the skin, in addition to problems with the intestines and arteries. (different to those types causing osteogenesis imperfecta).

Nicolo Paganini of Genoa, proclaimed by many as the greatest violinist who ever lived, was said have suffered, his hyperextensible joints allowing him extraordinary flexibility and dexterity in his fingers. However, the disease also led to him suffering numerous recurrent bouts of severe abdominal pain


Many people with this syndrome show extreme skin elasticity. For instance Garry “Stretch” Turner, as a result of his stretchy skin, currently holds the record for having the most clothes pegs attached to his face – 153!


Marfan Syndrome


Marfan syndrome is characterised by excessively long arms (an arm span that exceeds their height) and legs and often long narrow faces. However, there most serious complications involving the heart and major blood vessels. This disease results from mutations in fibrillin protein that normally allows tissues to stretch repeatedly without weakening.

As this disorder can lead to increased height and lengthened arms, many sufferers become involved in sports such as basketball and volleyball. But this disorder can prove fatal, especially during physical activity. Flo Hyman, considered the best female volleyball player in the world, collapsed and died shortly after a game, with a subsequent autopsy revealing that she had Marfan’s syndrome.


Another characteristic sign Marfan syndrome is disproportionately long fingers and toes. Sergei Rachmaninov, who is widely suspected to have had this, is said to have had one of the widest hand spans of any pianist. He was able to cover a twelfth with his left hand – a span of approximately 12 inches from his little finger to his thumb – well over the length of an A4 page!


Marfan’s syndrome has also been linked to Charles de Gaulle and Osama bin Laden, who was unusually tall for his family with a curved spine and narrow face suggestive of Marfan’s syndrome. Furthermore, it was reported that he may have had heart problems.


Abraham Lincoln is been suggested to have had Multiple endocrine neoplasia type 2b, another genetic disorder with some similarities to Marfan’s syndrome though also resulting in tumours of the mouth and eyes. Indeed Lincoln did have the marfan-like body shape, large, bumpy lips a strange “mole” on his right cheek, and drooping eyelid. It is possible that his sons Eddie, Willie, and Tad, and his mother aso showed this dominantly inherited disorder.


Cutis Laxa

Autosomal dominant, recessive and X-linked


Cutis laxa (Lat. cutis, skin; laxa, loose), is characterized by skin that is inelastic and so hanging loosely in folds. In the face, this can sometimes give, even young, sufferers a droopy Churchillian appearance – Winston Churchill certainly did not suffer though.


Other parts of the body, including the heart, blood vessels, joints, intestines, and lungs can also be affected.