Congenital contractural arachnodactyly, also known as Beals-Hecht syndrome, is a rare autosomal dominant congenital connective tissue disorder. As with Marfan syndrome, people with CCA typically have an arm span that is greater than their height and very long fingers and toes.
Although the clinical features can be similar to Marfan syndrome (MFS), multiple joint contractures (especially elbow, knee and finger joints), and crumpled ears in the absence of significant aortic root dilatation are characteristic of Beals syndrome and rarely found in Marfan syndrome.
People with Beals syndrome benefit from physical therapy that can improve mobility of joints and strengthen the muscles. Surgical procedures may be necessary to release joints and other parts of the body that are in a permanently bent position (flexion contractures).
Beals-Hecht syndrome, also known as congenital contractural arachnodactyly, is caused by a defect in fibrillin as in Marfan syndrome. This syndrome is characterized by a multitude of clinical findings including arachnodactyly, narrow body habitus, scoliosis, congenital contractures, and external ear deformities.
Congenital contractural arachnodactyly (CCA, Beals syndrome) is a connective tissue disorder characterized by multiple flexion contractures, arachnodactyly, severe kyphoscoliosis, abnormal pinnae and muscular hypoplasia.
Blight spreads by fungal spores that are carried by insects, wind, water and animals from infected plants, and then deposited on soil. The disease requires moisture to progress, so when dew or rain comes in contact with fungal spores in the soil, they reproduce.
Hunter syndrome is a rare, inherited disorder in which the body does not properly digest (break down) sugar molecules in the body. When these molecules build up in organs and tissues over time, they can cause damage that affects physical and mental development and abilities.
Linkage to a gene coding for fibrillin on chromosome 5q23-31 has been shown in several kindreds. The prognosis for a normal lifespan is good and improvement in joint contractures is usual.
Congenital contractural arachnodactyly (CCA), also known as Beals-Hecht syndrome, is a rare autosomal dominant congenital connective tissue disorder. As with Marfan syndrome, people with CCA typically have an arm span that is greater than their height and very long fingers and toes.
Arachnodactyly ("spider fingers") is a medical condition that is characterized by fingers and toes that are abnormally long and slender, in comparison to the palm of the hand and arch of the foot. In some cases, the thumbs of an individual with the condition are pulled inwards towards the palm.
CCA is an autosomal dominantly inherited disorder. The recurrence rate is estimated to be 50%.
Beals syndrome is diagnosed by visiting a geneticist and getting an evaluation based on the presence of a group of specific symptoms as listed, as well as confirmation of an fibrillin-2 mutation by genetic testing if needed.
Because of medical advances (especially heart surgeries), life expectancy for people with Marfan syndrome started to rise in the late 1970s. In the past, the life expectancy was 32 years. Today, some people with Marfan syndrome can live past age 72.
People with Marfan syndrome are usually tall and thin with unusually long arms, legs, fingers and toes. The damage caused by Marfan syndrome can be mild or severe. If your aorta — the large blood vessel that carries blood from your heart to the rest of your body — is affected, the condition can become life-threatening.
Congenital contractural arachnodactyly (CCA) is a genetic disorder that is characterized by tall height; skinny, long limbs; long, skinny fingers and toes (arachnodactyly); multiple joint deformities present at birth (congenital contractures), usually of the elbows, knees, hips, fingers and ankles; "crumpled"-looking ...
Coffin-Lowry syndrome is caused by changes (mutations) in the RPS6KA3 gene on the X chromosome. Some individuals with Coffin-Lowry syndrome do not have a detectable mutation in the RPS6KA3 gene. Coffin-Lowry syndrome is inherited in an X-linked dominant pattern.
People with Marfan syndrome are often taller than expected for their family and slender with long fingers and toes. They also may have a long face, deep-set eyes, a small jaw, and a high-arched roof of the mouth with crowded teeth.
Macrodactyly is an uncommon condition in which a baby's toes or fingers are abnormally large due to the overgrowth of the underlying bone and soft tissue. Macrodactyly is not cancerous. However, the larger fingers or toes (digits) may make it hard for your child to use the affected hand or foot for certain activities.
Arachnodactyly is a condition in which the fingers are long, slender, and curved. They look like the legs of a spider (arachnid).
Marfan syndrome and related conditions are complex and progressive. People can now live a long lifespan, but it may not be pain-free due to the effects of surgery, increased stress on bones and joints, and other complications due to the diagnosis.
The expected lifespan of a person with Marfan syndrome used to be around the mid-40s age group, but now extends into the 70s – which is comparable to the general population. This improved lifespan is mainly due to: improved awareness of Marfan syndrome across health professionals.
In Marfan syndrome, the connective tissue is weaker than normal, so it stretches, bulges, or tears. This syndrome most commonly affects the heart, eyes, blood vessels, skin, and skeleton. In most cases, the disease tends to worsen with age.
dementia, including Alzheimer's disease. advanced lung, heart, kidney and liver disease. stroke and other neurological diseases, including motor neurone disease and multiple sclerosis. Huntington's disease.
Early signs and symptoms can include irritability, depression, small involuntary movements, poor coordination, and trouble learning new information or making decisions. Many people with Huntington disease develop involuntary jerking or twitching movements known as chorea.