According to abbreviationfinder, CSD stands for congenital spondyloepiphyseal dysplasia. Congenital spondyloepiphyseal dysplasia means roughly “congenital malformation of the long bones and vertebral bodies” and describes a form of dwarfism that is genetically determined. Other synonyms for congenital spondyloepiphyseal dysplasia are SEDC and SED congenital type. The disease was first described by the German pediatricians Jürgen W. Spranger and Hans-Rudolf Wiedemann in 1966. SEDC is therefore also referred to as SED type Spranger-Wiedemann.
What is congenital spondyloepiphyseal dysplasia?
Congenital spondyloepiphyseal dysplasia is a skeletal dysplasia defined by abnormal development of the vertebral bodies and the epiphysis of the long bones. It is a rare form of SED and is inherited in an autosomal dominant manner.
The disease is caused by a mutation in the COL2A1 gene, which encodes the collagen type II protein. The mutation triggers an incorrect substitution of the responsible amino acid, which leads to the present clinical picture.
The mutation is inherited in an autosomal dominant manner. So one affected allele is enough to trigger congenital SED. In the case of a heterozygous, i.e. with one allele, affected parent, transmission to the offspring is 50 percent. With two heterozygous affected parents in 75 percent. If one or both parents are homozygous, the transmission of the disease is 100 percent.
Symptoms, Ailments & Signs
People with congenital spondyloepiphyseal dysplasia are short from birth.
© Nolte Lourens – stock.adobe.com
Collagen type II is an important structural protein for hyaline and elastic cartilage in mammals and a mutation therefore results in a wide range of symptoms. The orthopedic symptoms are initially in the foreground:
People with congenital spondyloepiphyseal dysplasia are short from birth. The shortened upper body and the short limbs are particularly striking. Hands, feet and face, on the other hand, do not show any noticeable growth disorders. The spine is of normal size in relation to the femurs.
People with congenital SED are 0.9 to 1.4 meters tall. A pathological curvature of the spine exists and develops from the initial hollow back (hyperlordosis) to a rounded back (kyphosis) and/or a lateral twisting (lateral deviation/ scoliosis) of the spine. Flattening of the vertebrae and other deformities, especially in the neck area, increase the risk of spinal cord damage.
Other orthopedic deformities such as the coxa vara, a malposition of the femur or clubfoot are also frequently present. Declining mobility of the limbs very often develops in early childhood. In addition, there are often arthritic complaints.
Deformation of the facial bones has not been confirmed, but the cheekbones are often described as flattened. However, this observation could not be substantiated by statistics. An instability of the dens axis, the spine of the second cervical vertebra, can occur and also trigger extraskeletal complaints.
It can lead to respiratory disorders after birth as well as in the further course of childhood, which manifest themselves in short breathing pauses up to respiratory arrest. In addition to the bone structure, collagen type II is also required in the vitreous body of the eye, which is why there are often complaints here as well.
Short-sightedness (myopia) and retinal detachment (retinal detachment) are therefore further consequences of the COL2A1 mutation. There is also often an increased interpupillary distance (hypertelorism). Another affected area is the inner ear, which is why those affected tend to be hard of hearing. There is also an increased risk of cleft lip and palate. As a result of the mutation, the patients are not only affected orthopedically, but also extraskeletal.
Diagnosis & course of disease
Diagnosis is by human genetic testing. A laboratory test can confirm the suspicion by searching for a specific mutation in the COL2A1 gene. All 54 exons of the COL2A1 gene, including the splice sites, are sequenced from the genomic DNA. A written declaration of consent for this procedure is required from the patient or from the patient’s parents, as the guidelines of the Genetic Diagnostics Act apply.
With this disease, various malformations and deformities occur on the patient’s body. The patients suffer from severe short stature and also from growth disorders in other body regions. Malformations of the face, hands and ears can also occur. The back is also strongly arched and a so-called clubfoot develops.
The quality of life of those affected is significantly restricted and reduced by this disease. Likewise, facial deformities can lead to strong inferiority complexes or reduced self-esteem. Likewise, many patients often suffer from breathing difficulties, which in the worst case can lead to complete respiratory arrest.
The eyes are also affected by this disease, resulting in impaired vision or complete blindness. The ears are also affected by hearing loss. Those affected are often no longer able to cope with everyday life on their own and are dependent on the help of other people.
The treatment can be carried out with the help of therapies or through various interventions. However, not all symptoms can be alleviated. The life expectancy of the affected person may be reduced. Furthermore, it is not uncommon for the parents of the patients to require psychological support.
When should you go to the doctor?
KSD is hereditary and is therefore usually diagnosed immediately after birth. Parents who notice short stature, growth disorders or poor posture in their child should contact the pediatrician. Arthritic symptoms or a general feeling of illness are also clear warning signs that should be clarified immediately at best. The treatment usually takes place in a specialist clinic and includes various medical and surgical measures. During treatment, the patient must be closely monitored by a doctor and regularly examined. If there is no medical treatment, the KSD takes a serious course.
In order to prevent the malpositions and organ disorders from significantly impairing the quality of life, the disease must be treated at an early stage. If symptoms of congenital spondyloepiphyseal dysplasia appear later in life, a doctor’s visit is recommended. Then there is possibly only a slightly pronounced KSD, which, however, also needs to be treated medically. The right contact person is the general practitioner, an orthopedist and various internists. The individual symptoms are treated by speech therapists, ear and ophthalmologists and therapists.
Treatment & Therapy
The orthopedic problem is the main focus of treatment for the sick. Regular training units in the form of physiotherapy to stabilize the spine are recommended. The other extra-skeletal symptoms should also not be neglected, as they can cause serious consequential damage.
Precisely because a worsening of the extraskeletal symptoms is to be expected over time, regular ophthalmological and ENT check- ups are an important part of the care of children with SEDC. A cervical spine X-ray to check or exclude the suspicion of SED is urgently needed within the first six months of the infant’s life.
Furthermore, functional images, especially an MRI of the craniocervical transition, i.e. the transition from the upper cervical vertebrae to the skull, are recommended. In emergency and accident surgery, the anesthetist in particular should be informed as early as possible about possible atlantoaxial instability, i.e. instability between the first two cervical vertebrae, the atlas and the axis. Since serious complications can occur during the intubation of congenital SED patients, prior consultation is essential.
Outlook & Forecast
Congenital spondyloepiphyseal dysplasia is characterized by an unfavorable prognosis. The disease develops as a result of a gene mutation in the process of human development. Legal requirements prevent doctors and medical professionals from modifying the genetic material of the human organism. Therefore, the main focus of the researchers is on the development of treatment methods that lead to an alleviation of the symptoms. The malformations are corrected as best as possible by doctors in surgical interventions. Despite all efforts and multiple corrections, the patient’s natural state of health cannot be achieved.
The aim is to alleviate symptoms and to ensure that the body is able to function optimally. Every operation is associated with various risks and side effects. These must be taken into account when making a forecast. In addition, dysplasia causes great emotional distress in many people. An unfavorable course of the disease can lead to the development of mental illnesses. These worsen the quality of life and the general state of health of the person concerned.
The symptoms of dysplasia are expressed with different intensity in each patient. The more symptoms occur, the worse the prognosis. In severe cases, respiratory arrest can also occur and the patient may die prematurely. In the case of complete blindness, those affected depend on the daily support of other people.
Regular medical treatment is essential, as the disease can lead to significant orthopedic problems. In particular, the severe misalignment of the spine that often occurs can often be counteracted with competent physiotherapy.
Instructions for self-help, i.e. for regular and correct gymnastic exercises, are essential for the patient to lead a self-determined life. In other treatment areas such as hearing loss and short-sightedness, the extent of the disease varies greatly. Therefore, it must be weighed up individually for those affected to what extent continuous treatment is worthwhile or life-limiting for the patient.
In most cases, those affected have either no or only very few follow-up measures available for this disease. First and foremost, a doctor should be consulted early on with this disease and a diagnosis carried out, since self-healing cannot occur in this case. If you wish to have children, genetic testing and counseling can also be carried out to prevent the disease from recurring.
However, a complete cure is not possible. Most of those affected are dependent on the measures of physiotherapy or physiotherapy due to the disease. Many of the exercises can also be repeated at home, which speeds up the treatment.
Regular check-ups by a doctor are also very useful and important in order to identify and treat other damage at an early stage. Some of those affected are also dependent on the help and support of their own families in their everyday life, whereby loving conversations can also have a positive effect on the course of the disease and also on the psychological state of the person affected. As a rule, the life expectancy of those affected is not reduced by this disease.
You can do that yourself
Patients with congenital spondyloepiphyseal dysplasia develop a plan for self-help in everyday life together with the treating physicians. Due to their short stature, the patients suffer from limitations in their ability to move, so that certain everyday activities can only be carried out with difficulty. The patient’s apartment can be remodeled according to the needs and requirements of the patient, so that at least at home the affected person does not suffer from severe mobility restrictions.
Due to the malformations of the spine and the associated strain on the back, it is extremely important that those affected regularly carry out physiotherapy exercises with a physiotherapist. Certain training units can also be carried out at home if this is desired by the patient. As a result, the affected person strengthens the muscles and, at best, counteracts a further reduction in mobility.
Patients come regularly for routine medical examinations, even if no new symptoms appear. Because those affected are predestined for eye diseases and hearing impairment. The respiratory tract may also be affected by congenital spondyloepiphyseal dysplasia, so that controls are necessary. Some patients suffer from inferiority complexes that require the attention of a psychologist. In some cases, the parents also need psychotherapeutic treatment.