Epiphyseal dysplasia- multiple- 4
Overview
Epiphyseal dysplasia, multiple, 4: An inherited bone and cartilage disorder which is usually mild enough to go undiagnosed.
Symptoms
The list of signs and symptoms mentioned in various sources for Epiphyseal dysplasia, multiple, 4 includes the 7 symptoms listed below: * Joint pain * Hand malformations * Feet malformations * Knee malformations * Abnormal curvature of the spine * Clubfoot * Double-layered patella
Causes
* Abnormal curvature of the spine * Clubfoot * Joint pain .A combination of genetic and environmental factors in utero appears to cause clubfoot. Heredity is a definite factor in some cases, although the mechanism of transmission is undetermined. In children without a family history of clubfoot, this anomaly seems linked to arrested development during the 9th and 10th weeks of embryonic life, when the feet are formed. Researchers also suspect muscle abnormalities, leading to variations in length and tendon insertions, as possible causes of clubfoot. Clubfoot, which has an incidence of approximately 1 per 1,000 live births, usually occurs bilaterally and is twice as common in boys. It may be associated with other birth defects, such as myelomeningocele, spina bifida, and arthrogryposis.
Treatment
Clubfoot is correctable with prompt treatment, which is performed in three stages: correcting the deformity, maintaining the correction until the foot regains normal muscle balance, and observing the foot closely for several years to prevent the deformity from recurring. In neonates with true clubfoot, corrective treatment should begin at once. An infant’s foot contains large amounts of cartilage; the muscles, ligaments, and tendons are supple. The ideal time to begin treatment is during the first few days and weeks of life, when the foot is most malleable. Clubfoot deformities are usually corrected in sequential order. Several therapeutic methods have been tested and found effective in correcting clubfoot. In all patients, the first procedure should be simple manipulation and casting, whereby the foot is gently manipulated into a partially corrected position and held in place by a cast for several days or weeks. (The skin should be painted with a nonirritating adhesive liquid beforehand to prevent the cast from slipping.) After the cast is removed, the foot is manipulated into an even better position and casted again. This procedure is repeated as many times as necessary. In some cases, the shape of the cast can be transformed through a series of wedging maneuvers instead of changing the cast each time. After correction of clubfoot, proper foot alignment should be maintained through exercise, night splints, and orthopedic shoes. With manipulating and casting, correction usually takes about 3 months. The Denis Browne splint, a device that consists of two padded, metal footplates connected by a flat, horizontal bar, is sometimes used as a follow-up measure to help promote bilateral correction and strengthen the foot muscles. Resistant clubfoot may require surgery. Older children, for example, with recurrent or neglected clubfoot usually need surgery. Tenotomy, tendon transfer, stripping of the plantar fascia, and capsulotomy are some of the surgical procedures that may be used. In severe cases, bone surgery (wedge resections, osteotomy, or astragalectomy) may be appropriate. After surgery, a cast is applied to preserve the correction. Clubfoot severe enough to require surgery is rarely totally correctable; however, surgery can usually ameliorate the deformity. Treatment methods Several therapeutic methods have been tested and found effective in correcting clubfoot. The first is simple manipulation and casting, whereby the foot is gently manipulated into a partially corrected position, then held there in a cast for several days or weeks. (The skin should be painted with a nonirritating adhesive liquid beforehand to prevent the cast from slipping.) After the cast is removed, the foot is manipulated into an even better position and casted again. This procedure is repeated as many times as necessary. In some cases, the shape of the cast can be transformed through a series of wedging maneuvers, instead of changing the cast each time. After correction of clubfoot, proper foot alignment should be maintained through exercise, night splints, and orthopedic shoes. With manipulating and casting, correction usually takes about 3 months. The Denis Browne splint — a device that consists of two padded, metal foot plates connected by a flat, horizontal bar — is sometimes used as a follow-up measure to help promote bilateral correction and strengthen the foot muscles. Resistant clubfoot may require surgery. Older children, for example, with recurrent or neglected clubfoot usually need surgery. Tenotomy, tendon transfer, stripping of the plantar fascia, and capsulotomy are surgical procedures that may be used. With severe cases, bone surgery (wedge resections, osteotomy, or astragalectomy) may be appropriate. After surgery, a cast is applied to preserve the correction. Whenever clubfoot is severe enough to require surgery, it’s rarely totally correctable. However, surgery can usually ameliorate the deformity.