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Congenital Contractural Arachnodactyly
Thursday, 05 August 2004
Sunday, 28 November 2004
CCA, Beals Syndrome, Hecht-Beals Syndrome)
Congenital Contractural Arachnodactyly is a genetic disorder that affects the formation of connective tissue, causing the characteristic contractures (fixed, abnormal positions and reduced mobility of the joints and long fingers and toes). The gene that causes CCA is fibrillin-2 (FBN2), which is on chromosome 5. Fibrillin-2 is important in the formation of elastic fibers, which are crucial to the normal functioning of several organs and the skeletal system.
The prevalence of Congenital Contractural Arachnodactyly is not known, and this syndrome does not affect a particular race or ethnicity.
Signs and Symptoms
There is a wide range of physical symptoms seen in people with CCA. The most severe or lethal form involves abnormalities of the heart and the digestive system.
• Tall and slender skeletal build
• Arm span is greater than height
• “Crumpled” ears (the upper part of the outer ear is folded down)
• Small jaw
• High arched palate
• Long and slender fingers and toes
• Forehead protrusion
• Abnormally shaped head
• Contractures of the joints, especially the knees, elbows, fingers, and toes but can also affect the hips
• Clubfoot (foot is twisted)
• Bowing of long bones
• Decreased muscle mass
• Kyphosis/scoliosis (abnormal bending of the spine)
• Aortic root dilatation (enlarged opening of a section of the aorta)
Severe/Lethal CCA will have the above symptoms along with the following symptoms:
• Cardiovascular abnormalities – atrial/ventricular septal defects (holes in between the chambers of the heart), single umbilical artery, interrupted aortic arch
• Gastrointestinal abnormalities – malrotation of the intestines, closure of the esophagus or duodenum
Congenital Contractural Arachnodactyly is caused by a mutation in the gene FBN2, which codes for a protein (fibrillin) that is important in elastic fiber formation. Elastic fibers help form tissues and organs and allows flexibility and movement. The lack of fibrillin causes the contractures because the elastic fibers lost their stretching ability. The inheritance pattern of CCA is autosomal dominant. This means that the child received one altered copy of FBN2 from one parent, and this parent also has symptoms of CCA. Occasionally, the altered gene is not found in either parent, but is found in the child. This suggests that a spontaneous mutation occurred in FBN2.
The diagnosis of CCA is made through physical findings of the above symptoms. Prenatal diagnosis can be made through ultrasound.
It is very important to get an echocardiogram (an ultrasound of the heart) when a diagnosis of CCA is made. Sometimes CCA is mistakenly diagnosed since these features are similar to Marfan Syndrome. Marfan Syndrome is more strongly associated with heart abnormalities, thus an echocardiogram is necessary for monitoring the heart. Physical therapy is the primary treatment of CCA. This will help loosen the joints and preserve muscle mass. Sometimes surgical intervention may be needed if the joint contractures are severe. Braces may also be needed if spinal curvature becomes too excessive to maintain proper balance for walking. Similar treatments will also be used for severe/lethal CCA, but because of the associated organ problems the outcome is not as good.
If there are no gastrointestinal, cardiovascular, or neurological problems, the prognosis of classic CCA is good. The contractures will slowly loosen as the patient ages. Physical therapy will be needed to increase joint movement and to help stabilize muscle mass. Kyphosis/scoliosis tends to worsen over time, but this can be relieved by braces. Life expectancy is the same as the general population. The prognosis for severe/lethal CCA is poor. The recorded lifespan of these patients ranged from 8 days to 11.5 months. The primary causes of death are respiratory complications, abnormalities of the heart, and general loss of muscle mass.
Connect with other parents
In the spirit of community and support, Madisons Foundation offers the unique service of connecting parents of children with rare diseases. If you would like to be connected to other parents of children with this disease, please fill out this brief form.
National Marfan Foundation:
This organization has several local chapters and support groups all over the United States. They also provide a great amount of literature on Marfan Syndrome and related disorders, such as Beals Syndrome. They even have a hotline if one cannot find the answer to a question on the website.
National Institute of Arthritis and Musculoskeletal and Skin Diseases: http://www.niams.nih.gov/hi/topics/connective/connective.htm
Provides answers to commonly asked questions about connective tissue disorders. The information is not specific to CCA, but addresses some related disorders, like Marfan s syndrome.
Coalition for Heritable Disorders of Connective Tissue:
This organization s goal is to raise public awareness and encourage education and research about connective disorders.
Godfrey M (2003). Congenital Contractural Arachnodactyly. www.geneclinics.org/profiles/cca
Kolble N, Wisser J, Babcock D, Maslen C, Huch R, Steinmann B (2002). Prenatal ultrasound findings in a fetus with congenital contractural arachnodactyly. Ultrasound in Obstetrics and Gynecology. 20:4, p. 395-399.
Kupeli S, Korkmaz A, Bulun A, Yurdakok M, and Tuncbilek E (2004). Congenital Contractural Arachnodactyly and Femoral Fracture in a Newborn Infant: A Causal Relationship or a Coincidence? American Journal of Perinatology. 21:1, p. 41-44.