What is Beals syndrome?
Congenital contractural arachnodactyly (Beals syndrome) is an autosomal dominantly inherited connective tissue disorder characterized by multiple flexion contractures, arachnodactyly, severe kyphoscoliosis, abnormal pinnae and muscular hypoplasia. It is caused by a mutation in FBN2 gene on chromosome 5q23.
How do you get Beals Hecht syndrome?
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.
What is Marfan and Beals syndrome?
One difference from Marfan syndrome is that, in Beals syndrome, the eyes are not affected. Another major difference is the way in which Beals syndrome affects the body’s joints. People with Beals syndrome are unable to fully extend joints like their fingers, elbows, knees, toes, and hips.
Does Beals Hecht syndrome life expectancy?
Congenital contractural arachnodactyly (CCA), also known as Beals-Hecht syndrome, is a rare autosomal dominant congenital connective tissue disorder….
| Congenital contractural arachnodactyly | |
|---|---|
| Prognosis | Life expectancy depends on severity of symptoms but typically it is not shortened |
How many people have Beals?
Features of Beals syndrome are found throughout the body, especially in large joints. While there is no information on the exact prevalence of Beals syndrome, it is estimated that the incidence (number of new cases within a given time) of Beals syndrome is less than 1 in 10,000 people per year.
How do you cure arachnodactyly?
Physical therapy for joint contractures helps increase joint mobility and improve the effects of muscle hypoplasia (usually in the calf muscles). In severe cases, surgery may be needed. Since the kyphosis/ scoliosis tends to be progressive, bracing and/or surgical correction is often needed.
What is it called when you have long fingers?
Arachnodactyly (“spider fingers”) is a condition in which the fingers and toes are abnormally long and slender, in comparison to the palm of the hand and arch of the foot.
What causes arachnodactyly?
Congenital contractural arachnodactyly (CCA) is caused by mutations in the FBN2 gene . The FBN2 gene provides instructions for producing the fibrillin-2 protein . Fibrillin-2 binds to other proteins and molecules to form threadlike filaments called microfibrils.
What is fawn calf syndrome?
Congenital contractural arachnodactyly (CA), also known as “fawn calf” syndrome (FCS), is a heritable disease of newborn Angus and Angus-derived cattle caused by an error in the DNA genetic code transmitted from parents to their progeny.
What causes extra long fingers?
Longer arms in Marfan syndrome Marfan syndrome is a genetic disorder that causes people to have unusually long arms, legs and fingers.
Congenital contractural arachnodactyly (Beals syndrome) is an autosomal dominantly inherited connective tissue disorder characterized by multiple flexion contractures, arachnodactyly, severe kyphoscoliosis, abnormal pinnae and muscular hypoplasia.
Which physical findings are characteristic of Beals syndrome (MFS)?
Although the clinical features can be similar to Marfan syndrome (MFS), multiple joint contractures (especially of the 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 MFS.
What is CCA (Beals Hecht syndrome)?
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.
What is the difference between Beals and Marfan syndrome?
Beals syndrome has distinct features however, and is caused by a mutation in the fibrillin-2 gene (FBN2) in 5q23, while Marfan syndrome is caused by mutations in fibrillin-1 [1]. Differential diagnosis The main differential diagnosis is Marfan syndrome.