Over 600 known connective tissue disorders exist today
CONNECTIVE TISSUE DISORDERS
Connective tissue dysplasias encompass a wide range of disorders. These disorders are caused by defects in the connective tissues such as bone, ligaments, tendons and skin.
Persons affected with these disorders may have:
- too much joint movement (hypermobility)
- not enough joint movement (joint contractures – hypomobility)
- excessive laxity (looseness) of skin or
- fragile bones, skin, ligaments etc.
- short stature
- excessively tall stature
The disorders can be variable because many affected people have a mixture of these different symptoms. Most connective tissue dysplasias follow common patterns of inheritance. These patterns can help genetic counsellors to provide families with information about inheritance in their family. There are similarities between the disorders, so that research findings in one disorder are often of great help in understanding another disorder.
Connective tissue disorders are generally categorised into 6 distinct groupings, however there are disorders that overlap multiple groupings and others that do not fit the main groups.
Ehlers-Danlos Syndrome and hypermobility
People with these syndromes have hypermobile joints (very loose joints) from birth and throughout life. There are 6 major subgroups…
The Marfan Syndrome is associated with tall stature and long arms and legs. There is an increased risk of visual disability and blood vessel rupture in adult life. People with Marfan Syndrome usually have very loose joints….
This group of inherited disorders are caused by a lysosomal enzyme deficiency. The body does not produce any, or very little, enzyme, so complex sugars are stored in the body tissue…
There are about 350 disorders in this group. They are generally diagnosed by an x-ray of the skeleton. They affect bone (bone dysplasias) and/or cartilage (chondrodysplasias)…
People with OI have very fragile bones. There are different types of OI and a wide range in severity from person to person. In some people, the whites of the eyes, called sclerae…
Skeletal (Bone) dysplasia
Skeleteal (Bone) Dysplasias are hereditary disorders of bone growth that occur as a result of primary lesions in growth cartilage.
Arthrogryposis and related disorders
Arthrogryposis multiplex congenita (AMC), or simply arthrogryposis, describes congenital joint contracture in two or more areas of the body. It derives its name from Greek, literally meaning “curving of joints”…
Other CTD disorders
There are other disorders which are also called Connective Tissue Dysplasias. These include rare disorders such as the Weill-Marchesani syndrome and common disorders such as familial hip dysplasia.