The chondrodysplasia punctata type Sheffield provides a genetic form is a skeletal dysplasia. It is characterized by calcification of the feet and hands as well as by face changes. It is a mild disease from the group of chondrodysplasias.
What is Sheffield Type Chondrodysplasia punctata?
The Chondrodysplasia punctata type Sheffield belongs to the chondrodysplasias, which are characterized by changes in the cartilage tissue. The term chondrodysplasia is also used very often for achondroplasia. However, in addition to the Sheffield type chondrodysplasia punctata, chondrodysplasias also include other rare congenital skeletal dysplasias, including those of the group of chondrodysplasia punctata.
The group of chondrodysplasia punctata includes congenital skeletal dysplasias, which are characterized by punctiform calcifications on cartilage tissue, in the trachea or in the larynx. The genetic changes in the various diseases affect completely different genes. For example, there are autosomal dominant, autosomal recessive and x-linked inheritance patterns.
The Sheffield type Chondrodysplasia punctata is inherited as an autosomal dominant trait. In addition to cartilage calcifications, other dysplasias are found in all diseases in this group. The main symptoms are growth disorders and failure to thrive, but these develop differently depending on the disease.
The clinical picture of Chondrodysplasia punctata type Sheffield was described as early as 1974 by the two American orthopedists Paul Duffy and Theodore Vinke. At that time they called it Chondrodystrophia calcificans congenita. According to a publication by the Australian pediatrician Leslie J. Sheffield in 1976, the name Chondrodysplasia punctata type Sheffield has become established for this disease.
Causes
Sheffield type chondrodysplasia punctata is caused by an autosomal dominant mutation. In some cases the disease occurs again. This is a new mutation. The Sheffield type Chondrodysplasia punctata can also be passed on from one generation to the next.
In contrast to autosomal recessive hereditary diseases, no generation is skipped during transmission. If one parent has the condition, their offspring have a 50 percent chance of inheriting it. However, not much is known about the underlying metabolic processes.
Symptoms, ailments & signs
Chondrodysplasia punctata type Sheffield is characterized by abnormal calcifications on the feet, toes, ankles, vertebrae, thighs, coccyx, upper arms and on the larynx cartilage. This results in failure to grow and thrive. There is a proportionately short stature. Mental development is slightly delayed.
However, the calcifications dissolve by the age of five, so that normal growth is possible thereafter. In addition to the growth and thriving disorders, however, facial changes also occur. However, these persist despite normal growth completion. One of the features of the facial changes is a flat and wide bridge of the nose.
The nostrils appear flat and crescent-shaped. Infants in particular suffer from impaired nasal breathing. Furthermore, the upper lip is arched forward. The philtrum, i.e. 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 stand out. Postaxial polydactyly occurs in some cases.
That is, some patients have excess fingers or toes. Polydactyly usually follows an autosomal dominant inheritance and is believed to be caused by the same mutation as the entire syndrome. Compared to the other forms of chondrodysplasia, the Sheffield type chondrodysplasia punctata is one of the milder skeletal dysplasias.
After the initial growth and development delays, largely normal development is possible later. Although intellectual development is delayed, some adults achieve average intellectual abilities.
Diagnosis & course
The diagnosis can be made based on the characteristic symptoms. The calcifications in the joints also occur in the other diseases of chondrodysplasia punctata. However, the changes in the face are groundbreaking for the diagnosis. The calcifications in the cartilage can be determined in the course of radiological examinations.
The x-ray shows symmetrical calcium deposits on both the hands and feet. However, the calcifications on the heel bone are specific to the Sheffield type chondrodysplasia punctata. In terms of differential diagnosis, however, other diseases of the form of chondrodysplasia punctata must be differentiated.
This is especially true for the also autosomal dominant inherited chondrodysplasia punctata of the tibial-metacarpal type. However, similar symptoms can also be acquired. If anticoagulants, vitamin K deficiency or anticonvulsant medication are consumed during pregnancy, corresponding findings may arise in the offspring.
Complications
Due to the Sheffield type chondrodysplasia punctata, the patients mainly suffer from malformations and calcifications in different parts of the body. Usually, the disease primarily 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 mental development of the patient is also delayed by the Sheffield type chondrodysplasia punctata. Breathing through the nose is hindered in the children and the upper lip has an unnatural curvature. The jaw can also be affected by a malformation. The fingers and toes have excessive limbs.
In many cases, the malformations and mental retardation lead to bullying and teasing in children. This can lead to depression. The mental delays can, however, be treated with the help of various therapies so that the patients do not have any mental complaints in adulthood.
A causal treatment of Chondrodysplasia punctata type Sheffield is unfortunately not possible. The calcifications and growth disorders usually resolve themselves, so that normal growth eventually occurs. Malformations on the face can only be treated cosmetically. Spiritual development can also be restored through proper support. There are no further complications for the patient.
When should you go to the doctor?
The Sheffield punctate chondrodysplasia is manifested by clear deformities and calcifications in different parts of the body. The disease is usually diagnosed immediately after birth and the necessary therapeutic measures are initiated immediately. Parents should consult their doctor regularly and inform them about symptoms and complaints. The doctor should be contacted, especially in the event of unusual complaints.
If the malformations lead to falls or accidents, the emergency doctor must be called or the medical emergency service should be contacted. It is also advisable to speak to specialists and specialists. Sometimes new treatments can be used or specific symptoms can be targeted.
If it is suspected that the child is suffering from inferiority complexes or depression as a result of the malformations, a therapist should be consulted. In the case of bullying and teasing, it is best to ask the responsible kindergarten teacher or teacher for a discussion. If the psychological problems continue into later life, comprehensive psychological counseling is indicated.
Treatment & Therapy
There is no causal therapy for Sheffield type chondrodysplasia punctata because it is a genetic disease. 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.
After that, the initially delayed growth normalizes and normal growth comes to an end. Mental development can also be made up for with good support. However, the characteristic changes in the face remain.
Outlook & forecast
As a rule, Sheffield type chondrodysplasia punctata has a positive course of the disease, although the disease cannot be treated causally. This is primarily because the condition is a genetic disease that can only be treated symptomatically. In most cases, treatment is only necessary in very young children.
In Sheffield type chondrodysplasia punctata, the symptoms usually disappear on their own after the age of five, so that there are no particular complications. Although the child’s growth is retarded in the beginning, it eventually grows normally and fully. This does not result in any particular complications for those affected.
However, since the Sheffield type chondrodysplasia punctata also causes a mental delay, this must be made up for accordingly. This does not lead to self-healing. With the help of special support, these complaints can also be alleviated. The changes in the face are not relieved by the self-healing process, so that they can usually be seen throughout life.
Prevention
Chondrodysplasia punctata type Sheffield, like other diseases of chondrodysplasia punctata, cannot be prevented. It is a genetic disease that may appear as a new mutation. However, since the disease is inherited in an autosomal dominant manner, the direct descendants of an affected parent have a 50 percent chance of also suffering from Sheffield type chondrodysplasia punctata. If you want to have children, genetic counseling and examinations should therefore be used.
Aftercare
Since Sheffield Type Chondrodysplasia punctata is a genetic defect, there is no causal treatment. Medical therapy can only be given symptomatically. Since the patients often do not reach the age of 10, hardly any statement can be made about any follow-up care. In addition to medical therapy, however, other measures can be used that complement medical treatment.
Since most of the patients are children, parents and relatives can help improve the quality of life for those affected. This can be done, for example, by stimulation of the most varied of types. Whenever possible, exercise can help maintain flexibility. Music or light therapy are further possibilities to support the little patients both mentally and emotionally.
Alternative therapy measures like these can be learned from doctors and therapists and then used independently at home. Both during medical treatment and as part of the follow-up care of a possibly completed therapy, such measures can help to increase the quality of life of the patient and to maintain success in the long term. Since Chondrodysplasia punctata Type-Sheffield can occur very differently depending on the course of the disease, alternative applications must be individually tailored to the respective patient.
You can do that yourself
The Sheffield type chondrodysplasia punctata cannot yet be treated causally. However, through some changes in everyday life and early self-help measures, those affected can lead a relatively normal life.
Parents of affected children should first initiate the necessary physiotherapeutic measures. These can be supported by physiotherapy and, more generally, by regular exercise. If the visual changes lead to psychological complaints, it is essential to speak to a therapist.
Psychological counseling may also be useful for the parents, as the disease is in most cases associated with stress and anxiety. With good support, intellectual development can be made up for. Parents should try to find a place in a suitable special school at an early stage. Regular preoccupation with the child is just as important, because the disturbances can only be completely compensated for through constant learning.
Since it is still a serious illness, it is advisable to seek therapeutic advice as well. The parents of an affected child can also turn to self-help groups and exchange strategies and tips with other parents.