Skeletal Dysplasia

By | June 10, 2022

Skeletal dysplasias are malformations of bone or cartilage tissue. Many skeletal dysplasias are based on hereditary mutations. A causal treatment is not yet available for genetically caused osteochondrodysplasia.

What is skeletal dysplasia?

Dysplasias are malformations. Medicine distinguishes between different forms. Congenital forms are differentiated from acquired dysplasia, for example. All dysplasias are classified as pathological phenomena and lead to a visible malformation of tissues, organs or the entire organism. For what does hematochezia mean, please visit

A visible malformation can, for example, correspond to a body-proportional displacement. Such shifts in body proportions are summarized under the collective term of skeletal dysplasia or osteochondrodysplasia. These types of dysplasia correspond to different developmental disorders of bone or cartilage tissue.

Different forms of skeletal dysplasia are distinguished. Depending on the exact localization of a skeletal malformation, medicine distinguishes between epiphyseal, metaphyseal and spondylar forms. In addition, lethal forms of skeletal dysplasia are treated as a separate subgroup. There are also symptomatic causal subdivisions. This results, for example, in subgroups such as skeletal dysplasia with increased or reduced bone density.


The cause of skeletal dysplasia can be of different nature. In many cases, skeletal dysplasia occurs as part of a congenital syndrome. In the narrower definition, osteochondrodysplasias have their cause in the genes. Mutations in various sections of DNA can lead to bodily elements involved in bone or cartilage formation no longer functioning, or only to an insufficient extent.

Such phenomena are in many cases hereditary, but can also occur sporadically due to exogenous factors and are then referred to as new mutations. This means that predominantly genetic defects with defective processes of differentiation, growth or formation of the cartilage and bones are summarized as the cause of skeletal dysplasia.

A distinction is made between growth and development disorders of the long bones or spine with early or late manifestation, bone density anomalies, structural defects or metaphyseal modeling defects and anarchic cartilage or fibrous tissue formation defects. Depending on the cause, there are individual exostoses, enchondromatoses, fibromatoses, osteopetrosis, melorheostoses and many other sub-forms.

Symptoms, Ailments and Signs

The symptoms of osteochondrodysplasia show a wide range of variation. For example, the skeletal changes may relate solely to height. Just as well, however, the physique or its proportions can be shaped by changes in anomalies. Basically, the symptoms for individual skeletal dysplasias can hardly be generalized.

Ultimately, the only thing that applies to all skeletal dysplasias is that the physical development of those affected does not correspond to the conventional picture. Common symptoms of skeletal dysplasia include shortened arms or legs. The severity depends on the exact disease in the individual case. Just as often, a deformed spine can be symptomatic of skeletal dysplasia. Abnormal face and skull shapes are also symptoms of various skeletal dysplasias, such as micrognathia.

Apart from that, malpositions of individual limbs can be considered as a symptom of osteochondrodysplasia. The same applies to high bone fragility, such as that which characterizes brittle bone disease. Especially in the context of hereditary syndromes, skeletal dysplasia is often associated with other malformation symptoms and even mental limitations.

Diagnosis and course of the disease

Skeletal dysplasia is diagnosed clinically and radiologically. The doctor usually develops a first suspicion of a certain skeletal dysplasia by visual diagnostics, as in the case of congenital dysplasia often immediately after birth. Some skeletal dysplasias can already be detected prenatally in fine ultrasound.

The dysplasia diagnosis is confirmed by laboratory tests, which allow a differential diagnosis to be made from bone diseases caused by metabolic changes. In the case of mutation-related skeletal dysplasia, molecular genetic examinations in the sense of a chromosomal structure analysis can often provide evidence of a specific mutation.

This proof is considered to confirm the diagnosis and excludes, for example, dysostoses or metabolic disorders as the cause. The prognosis for patients with skeletal dysplasia depends primarily on the severity of the dysplasia, the affected body regions and the organic involvement.


Malformations of the limbs or the entire body structure are typical for all skeletal dysplasias. Complications arise when the respective dysplasia leads to limitations in mobility or secondary diseases of the joints and bones occur. Skeletal dysplasia often leads to joint wear, cramps and fractures. Due to the deformed or shortened limbs, circulatory disorders can occur.

In isolated cases, this leads to blood clots, which always represent a medical emergency. The conspicuous physical appearance is usually also a psychological burden for those affected. Many sufferers develop inferiority complexes and social phobias in early childhood or adolescence. Suicidality is also increased in people with severe skeletal dysplasia.

The treatment of the disease often results in minor and major complications. Surgery is always associated with risks and occasionally causes infections or nerve injuries. The immobility of many of those affected also means that the wound heals slowly and wound healing disorders and inflammation occur again and again. If gene therapy is carried out, a serious disturbance of the immune system can result. If the course is severe, the therapy causes cancer.

When should you go to the doctor?

In the case of skeletal dysplasia, the person affected is usually always dependent on treatment by a doctor. This disease cannot heal itself. Since skeletal dysplasia is a hereditary disease, genetic counseling should also be carried out if you wish to have children in order to prevent the disease from being passed on to future generations.

A doctor should be consulted if the person concerned suffers from severe pain in the bones or from a very unusual bone structure. This leads to malformations or misalignments in the skeleton, with the spine of the affected person being significantly deformed by skeletal dysplasia. In many cases, the disease also leads to limitations in movement. If these symptoms occur, an orthopedist must be consulted for skeletal dysplasia. In the case of children, it is primarily the parents who need to recognize the symptoms of the disease and take their child to see a doctor. In most cases, the symptoms can be easily alleviated.

Treatment & Therapy

Since skeletal dysplasias in the narrower definition exclusively include genetic diseases of the skeleton, there is no causal treatment for patients with skeletal dysplasia to date. For this reason, osteochondrodysplasias are not curable up to the present time. Gene therapy has made significant advances in recent years.

However, gene therapy approaches have not yet reached the clinical phase. Under certain circumstances, gene therapy, once approved, will open up the first approaches to the causal treatment of skeletal dysplasia in the coming decades. So far, however, patients with osteochondrodysplasia have only been treated with symptomatic and supportive therapy.

The treatment therefore depends largely on the symptoms in the individual case. As a rule, orthopedic treatment is indicated, which corrects misalignments, lengths and axis deviations as far as possible. However, orthopedic correction is not possible in the context of all skeletal dysplasias. Bone density disorders can not be corrected by orthopedics, for example. It is different with anarchic bone changes.

Patients with such dysplasia can have the foci removed surgically, for example. In the case of lethal skeletal dysplasia, supportive therapy is in the foreground. Patients with fatal diseases should above all be relieved of pain. In addition, the care of a psychologist can help the person concerned and their relatives to deal with the situation.


Many skeletal dysplasias have been researched relatively well today and can be diagnosed with almost certainty using molecular genetic analysis. Since most skeletal dysplasias have a hereditary basis, genetic counseling in the family planning phase can represent a preventive approach. Couples can use the genetic analysis to assess their personal risk of having a child with different types of skeletal dysplasia. If the findings are appropriate, the decision can be made against having a child of your own.


In most cases, those affected with skeletal dysplasia only have very limited options for direct follow-up care. For this reason, the person affected should ideally consult a doctor at an early stage in order to prevent the occurrence of other complications and symptoms, since self-healing is also not possible.

A doctor should be consulted as soon as the first symptoms and signs of skeletal dysplasia appear. Since this is a genetic condition, it cannot be completely cured. Therefore, those affected should have a genetic test carried out if they wish to have children in order to prevent the occurrence of other complications and symptoms.

Many of those affected are dependent on regular checks and examinations by a doctor in order to regularly control the symptoms. The support of the family is also very important, as this can also prevent depression and other mental upsets. Contact with other people affected by skeletal dysplasia can also be useful, as this can lead to an exchange of information. The life expectancy of the patient may be limited by this disease.

You can do that yourself

The options for self-help are very limited in the case of skeletal dysplasia. The malformations must be medically cared for and treated, since alternative healing methods do not bring any improvement in the structure of the skeletal system. The person concerned can focus on promoting and supporting their mental health and working closely with the doctor or therapist treating them. Physical improvements are only possible to a limited extent.

Normally, physiotherapeutic treatment takes place to optimize the movement sequences. The training and exercise units learned there can also be used independently in everyday life. This procedure improves mobility and can contribute to an increase in well-being. Nevertheless, the patient lives with visual flaws and limitations in movement options.

In order to prevent the development of a mental illness, strengthening self-confidence is essential. The social environment should be sufficiently informed about the present health disorder so that unpleasant situations in everyday contact are reduced to a minimum. Sports activities or other physical movements in everyday life must be coordinated with the possibilities of the organism. If necessary, relatives or friends should be asked for help in coping with specific tasks. Situations of overexertion or excessive physical stress are to be avoided. These can lead to an increase in symptoms or further irreversible damage.

Skeletal Dysplasia