Chondrodysplasia punctata type Sheffield represents a genetically determined form of skeletal dysplasia. It is characterized by calcifications of the feet and hands and facial abnormalities. It is a mild disease of the chondrodysplasia type.
What is chondrodysplasia punctata type Sheffield?
Chondrodysplasia punctata type Sheffield is one of the chondrodysplasias characterized by changes in cartilage tissue. The term chondrodysplasia is very often also used for achondroplasia. However, in addition to chondrodysplasia punctata type Sheffield, chondrodysplasias include other rare congenital skeletal dysplasias, including those in the chondrodysplasia punctata group. The group of chondrodysplasia punctata summarizes congenital skeletal dysplasias characterized by punctate calcifications on cartilaginous tissue, in the trachea or in the larynx. The genetic alterations of the different diseases affect completely different genes. Thus, autosomal-dominant, autosomal-recessive and x-linked inheritances occur. Chondrodysplasia punctata type Sheffield is inherited autosomal-dominantly. In addition to the cartilage calcifications, all diseases of this group show other dysplasias of the skeleton. The main symptoms are growth and failure to thrive, which, however, develop differently depending on the disease. The clinical picture of chondrodysplasia punctata type Sheffield was described as early as 1974 by the two US orthopedists Paul Duffy and Theodore Vinke. At that time, they referred to it as chondrodystrophia calcificans congenita. Following a 1976 publication by Australian pediatrician Leslie J. Sheffield, the term chondrodysplasia punctata type Sheffield has become accepted for this condition.
Causes
The cause of chondrodysplasia punctata type Sheffield is an autosomal dominant mutation. In some cases, the disease is new onset. This is a new mutation. However, chondrodysplasia punctata type Sheffield can also be inherited from one generation to the next. Unlike autosomal recessive inherited diseases, no generation is skipped during transmission. If one parent has the disease, there is a 50 percent chance that the offspring will inherit it. However, not much is known about the underlying metabolic processes.
Symptoms, complaints, and signs
Characteristic of chondrodysplasia punctata type Sheffield are abnormal calcifications of the feet, toes, ankles, vertebrae, thighs, coccyx, upper arms, and laryngeal cartilage. This results in impaired growth and failure to thrive. There is proportionate short stature. Mental development is slightly delayed. However, the calcifications dissolve by the fifth year of life, so that a normal completion of growth becomes possible thereafter. In addition to the growth and growth disturbances, however, facial changes also occur. These remain despite normal growth completion. Among the facial changes, a flat and broad nasal root is noticeable. The nostrils appear flat and crescent-shaped. Infants in particular suffer from obstructed nasal breathing. Furthermore, the upper lip is curved forward. The philtrum, the vertical groove from the nose to the upper lip, is poorly developed. The base of the upper jaw appears flattened. In addition, the dental arch is short. Overall, protruding jaws are noticeable. In some cases, postaxial polydactyly occurs. That is, some patients have supernumerary fingers or toes. Polydactyly usually follows an autosomal dominant inheritance and is thought to be caused by the same mutation as the syndrome as a whole. Compared to the other forms of chondrodysplasia, chondrodysplasia punctata type Sheffield is one of the more mildly progressive skeletal dysplasias. After the initial growth and developmental delays, largely normal development is later possible. Although mental development is delayed, some adults do achieve average intellectual abilities.
Diagnosis and course
The diagnosis can be made on the basis of characteristic symptoms. Although the calcifications in the joints also occur in the other disorders of chondrodysplasia punctata. However, the facial changes are seminal to the diagnosis.Radiological examinations can detect the calcifications in the cartilages. The radiograph shows symmetrical calcifications on both the hands and the feet. However, the calcifications on the calcaneus are specific for chondrodysplasia punctata type Sheffield. However, other diseases of the chondrodysplasia punctata type must be differentiated. This is especially true for chondrodysplasia punctata of the tibial-metacarpal type, which is also inherited in an autosomal-dominant manner. However, similar disease symptoms may also be acquired. Thus, when anticoagulants, vitamin K deficiency, or anticonvulsant drugs are ingested during pregnancy, corresponding findings may occur in the offspring.
Complications
Due to chondrodysplasia punctata type Sheffield, patients mainly suffer from malformations and calcifications in different parts of the body. Usually, the disease mainly affects the ankles, toes, and feet. However, the upper arms can also be affected. Those affected often suffer from short stature and malformations of the face. The patient’s mental development is also delayed by chondrodysplasia punctata type Sheffield. Nasal breathing is obstructed in children and the upper lip has an unnatural curvature. The jaw may also be affected by malformation. Fingers and toes have excessive limbs. In many cases, the deformities and mental retardation lead to bullying and teasing in children. Depression can result from this. However, the mental delays can be treated with the help of various therapies so that patients do not have mental symptoms in adulthood. Unfortunately, causal treatment of chondrodysplasia punctata type Sheffield is not possible. The calcifications and growth abnormalities usually resolve on their own, eventually resulting in normal growth. Malformations of the face can only be treated cosmetically. Mental development can also be restored by proper stimulation. No further complications for the patient will occur.
When should one go to the doctor?
Chondrodysplasia punctata type Sheffield is manifested by clear deformities and calcifications in different parts of the body. In most cases, the condition is diagnosed immediately after birth and the necessary therapeutic measures are initiated without delay. Parents should consult their doctor regularly and inform him about symptoms and complaints. Especially in case of unusual complaints, the doctor should be contacted. If the malformations lead to falls or accidents, the emergency doctor must be called or the emergency medical service should be contacted. It is also advisable to talk to specialists and specialists. Sometimes new treatment methods can be used or certain symptoms can be specifically treated. If there is a suspicion that the child is suffering from inferiority complexes or depression due to the deformities, a therapist should be consulted. In the case of bullying and teasing, it is best to ask the responsible kindergarten teachers or teachers to talk to the child. If psychological problems continue into later life, comprehensive psychological counseling is indicated.
Treatment and therapy
There is no causal therapy for chondrodysplasia punctata type Sheffield, as it is a genetic condition. However, the very mild course of the disease opens up good development opportunities for those affected. As already mentioned, the calcifications in the cartilage resolve on their own from the age of five. Thereafter, the initially delayed growth normalizes and normal growth completion occurs. Mental development can also catch up with good support. However, the characteristic facial changes persist.
Outlook and prognosis
There is usually a positive outcome in chondrodysplasia punctata type Sheffield, although the disease cannot be treated causally. This is primarily because the disease is a genetic disease that can only be treated symptomatically. In most cases, treatment is only necessary in very young children.The symptoms of chondrodysplasia punctata type Sheffield usually disappear by themselves after the fifth year of life, so there are no particular complications. Although the child’s growth is delayed at the beginning, eventually the growth becomes normal and complete. No special complications occur for the affected person as a result. However, since chondrodysplasia punctata type Sheffield also causes mental retardation, it must be made up accordingly. In this case there is no self-healing. However, with the help of a special promotion, these complaints can also be alleviated. The changes in the face are not alleviated by self-healing, so that these are usually seen throughout life.
Prevention
Chondrodysplasia punctata type Sheffield, like the other diseases of chondrodysplasia punctata, cannot be prevented. It is a genetic disease that may occur as a new mutation. However, since the disease is inherited in an autosomal dominant manner, there is a 50 percent chance that the direct offspring of a diseased parent will also suffer from chondrodysplasia punctata type Sheffield. Human genetic counseling and testing should therefore be sought if children are desired.
Follow-up
Because chondrodysplasia punctata type-Sheffield is a genetic defect, there is no causative treatment. Medical therapy can only be symptomatic. Since patients often do not reach the age of 10, it is difficult to make a statement about possible follow-up care. However, in addition to medical therapy, other measures can be used to complement medical treatment. Since the patients are mostly children, parents and relatives can help to increase the quality of life of the affected persons. This can be done, for example, through stimulation of various kinds. As far as possible, physical exercises can help to maintain mobility. Music or light therapy are further ways of supporting the young patients both mentally and emotionally. Alternative therapies such as these can be learned from doctors and therapists, and then used independently at home. Both during medical treatment and as part of the aftercare of any completed therapy, such measures can help to increase the patient’s quality of life and maintain successes in the long term. Because chondrodysplasia punctata type-Sheffield can occur very differently depending on the particular course of the disease, alternative applications must be tailored to the individual patient.
Here’s what you can do yourself
Chondrodysplasia punctata type Sheffield cannot yet be treated causally. However, by making some changes in daily life and taking self-help measures early on, affected individuals can lead relatively normal lives. Parents of affected children should first arrange for the necessary physiotherapeutic measures. These can be supported by physiotherapy and, in general, by regular exercise. If the visual changes lead to psychological discomfort, it is essential to talk to a therapist. Psychological counseling may also be useful for parents, as the disease is usually associated with stress and anxiety. With good support, mental development can be caught up. Parents should try to find a place in a suitable special school at an early stage. Regular engagement with the child is equally important, because only constant learning can fully compensate for the disorders. Since this is a serious disorder in spite of everything, accompanying therapeutic counseling is recommended. The parents of an affected child can also turn to self-help groups and exchange strategies and tips in conversation with other parents.
