Congenital contractural arachnodactyly is a rare autosomal dominant connective tissue disorder characterized by congenital flexion contractures, arachnodactyly, camptodactyly and abnormally shaped ears, with or without involvement of the heart and the eyes.
Congenital contractual arachnodactyly (CCA) may also be known as Beals syndrome, Beals-Hecht syndrome and distal arthrogryposis type 9. Affected patients are usually tall with long limbs and possess a Marfan-like habitus  .
Flexion contractures present at birth are one of the main features of this condition. The most commonly affected joints include the fingers, elbows, hips, and knees. The degree of the contractures vary and they tend to spontaneously decrease in severity. However, residual camptodactyly is almost always observed. Abnormally long, slender fingers and toes (arachnodactyly) are another typical findings in such patients. Although the contractures make the evaluation of the disproportion between body and limb length difficult, the arm span surpasses the body height in most cases .
Other musculoskeletal abnormalities observed in CCA include scoliosis, kyphoscoliosis, pectus carinatum, a high arched palate, hypoplastic muscles, generalized osteoporosis, joint dislocations and ulnar deviation of the fingers. Scoliosis or kyphoscoliosis may be severe and may require surgical intervention  .
Ear changes include a prominent antihelix and root of helix and an irregular helix with a crumpled appearance.
To confirm the diagnosis, molecular genetic tests, allowing the detection of the defective gene, should be performed. Antenatal diagnosis is available and may be performed after genetic consultations. The possibility of germline and somatic mosaicism should always be considered during genetic counseling .
An ultrasound may help identify flexion contractures and hypokinesia in suspected cases. An X-ray may show elongation of the phalanges.
The main differential diagnosis is Marfan syndrome due to the numerous overlapping clinical features, such as Marfan-like habitus, camptodactyly, arachnodactyly, kyphoscoliosis and ocular problems. CCA was hence, considered to be a variant of Marfan syndrome. Moreover, changes in Marfan syndrome are due to abnormalities in a similar gene - FBN-1, situated on the 15q15-21.3 chromosome. However, these are two separate conditions with certain distinct differences  .
Congenital contractures, as well as scoliosis, are mainly observed in patients with CCA, with less incidence of ocular and cardiovascular complications. Ectopia lentis, in particular, is extremely rare. A crumpled ear appearance is a common characteristic in such patients, although it may also be present in patients with Marfan syndrome. An important distinguishing feature is the severity of the cardiac lesions, with Marfan syndrome patients presenting with aortic root dilatation that is usually progressive, a feature uncommonly seen in CCA .