What is Beals Syndrome?
Beals syndrome, also known as congenital contractual arachnodactyly (CCA) and Beals–Hecht syndrome, is a rare congenital connective tissue disorder. Basically, Beals syndrome is inherited as an autosomal dominant trait caused by a mutation in FBN2 gene on the chromosome 5q23. Contractures of different degrees at birth, mostly involving the large joints, are observed in all the affected children.
Knees, elbows and fingers are generally involved. The contractures can be mild and tend to decrease in severity with age. However, residual camptodactyly always remains present. Scoliosis and kyphoscoliosis are the most serious complication in Beals syndrome, which need to be treated through surgery. Beals syndrome affects males and females equally. The prevalence of this disease is still unknown.
Because of their overlapping clinical symptoms, for years Beals syndrome and Marfan’s syndrome were thought to be the same disorder. However, it was through extensive studies conducted in the recent years that researchers were able to determine that these disorders are caused by mutations in different genes. This confirmed that CCA or Beals syndrome is a separate disorder. Arthrogryposis multiplex congenital, Gordon syndrome, Homocystinuria, and Stickler syndrome are certain other disorders which display symptoms similar to Beals syndrome.
Symptoms of Beals Syndrome
Congenital contractural arachnodactyly or Beals syndrome is an extremely rare genetic disorder which triggers a broad range of symptoms. The specific symptoms of Beals syndrome that develop in each individual case and their severity often vary. Beals syndrome is characterized by a Marfan-like body habitus, i.e. the patient is tall and slender, and has contractures. Contracture means permanent fixation of certain joints like elbows, fingers, knees, and hip, in a flexed position.
Other classic symptoms of Beals syndrome also include arachnodactyly, i.e. they have abnormally slender and long fingers and toes. Beals syndrome patients have abnormally shaped ears which make these individuals appear crumpled. Even their feet are abnormally positioned, fingers are outwardly displaced and neck is abnormally short. They tend to have clubbed feet, adducted thumbs, and bowed long arms and legs. The span of their arms exceeds the body height but this discrepancy can be underestimated because of contractures of the fingers and elbows. The condition is same for the lower body portion due to knee contractures.
The less common symptoms of Beals syndrome are additional abnormalities of the craniofacial region that include a prominent forehead, a long narrow head, abnormally small jaw, a highly arched palate, and an unusually wide head. These patients may also suffer from eye conditions like myopia and keratoconus.
Other symptoms of Beals syndrome sometime also include side-to-side and front-to-back curvature of the spine, a condition known as kyphoscoliosis. This is a severe and progressive disorder with often necessitates a surgery. Rarely though, but affected individuals can also have a slight deformity of the valve on the left side of the heart. This specific heart defect is known as mitral valve prolapse (MVP). In some cases, MVP is asymptomatic. However, for others this heart issue can cause chest pain, dizziness, arrhythmias, fatigue.
Some of the rare symptoms of Beals syndrome are severe life-threatening complications like improper development of the aorta which causes blockage in normal blood flow, ventricular septal and atrial defects, single umbilical artery, esophageal atresia, duodenal atresia, intestinal malrotation, and aortic root dilatation.
Causes of Beals Syndrome
The main cause of Beals syndrome is genetic mutation. Beals syndrome is passed on to a child from their parent as an autosomal dominant trait. The chance of an affected parent passing the abnormal gene to their offspring is around 50% for each pregnancy, irrespective of the child’s sex. Researchers have determined that CCA is caused due to changes or disruptions in the fibrillin-2 or FBN2 gene situated on the long arm of the chromosome 5q23-31.
Due to its similarities with Marfan syndrome, it is tough to determine the actual incidence of Beals syndrome in general population. However, by using molecular genetic testing, doctors can now confirm a diagnosis of Beals syndrome, which can give more precise idea of the incidence of Beals syndrome.
Diagnosis of Beals Syndrome
Beals syndrome can be diagnosed thorough clinical evaluation and identification of characteristic findings. A molecular genetic test may be needed to confirm a diagnosis of Beals syndrome. This test detects FBN-2 mutations in nearly 75% of cases.
Treatment of Beals Syndrome
The treatment of Beals syndrome aims at relieving specific symptoms which are obvious in each patient. Treatment of Beals syndrome generally needs the coordinated efforts of a team of specialists. Cardiologists, pediatricians, surgeons, orthopedists, and other medical professionals together need to comprehensively and systematically plan an effective course treatment for the patient.
Treatment of Beals syndrome is based on the symptoms. Joint contractures can be treated with physical therapy which often needs to be started during childhood. This therapy not only helps to improve joint mobility but also decreases the effects of muscular hypoplasia. In many cases, joint contractures improve spontaneously with age without any treatment.
However, in certain cases, surgical intervention for contractures may be an essential part of treatment of Beals syndrome. Kyphoscoliosis in Beals syndrome patients is mostly severe and progressive. So these individuals may require surgery or treatment with braces to manage the problem. Many doctors recommend Beals syndrome patients to undergo an echocardiogram in order to distinguish the disorder from Marfan syndrome and identify any Beals syndrome related heart defects.
A complete ophthalmologic examination should also be conducted to detect any potential eye abnormalities. Genetic counselling may prove useful for patients of Beals syndrome and their families. Other treatments of Beals syndrome are supportive and may need counselling and speech therapy as well.