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Skeletal Dysplasia

Skeletal dysplasia are a diverse group of congenital disorders that require a multidisciplinary approach for diagnosis and management.

Skeletal dysplasia are a group of over 450 congenital disorders that are characterized by abnormalities in skeletal development. These disorders affect the growth and shape of the arms, legs, and trunk, and can lead to growth disturbances and deformities during childhood. Some examples of skeletal dysplasia include achondroplasia, spondyloepiphyseal dysplasia, Stickler syndrome, fibrous dysplasia/McCune Albright syndrome, and hereditary forms of rickets.

Our team

The expert team for skeletal dysplasia at Karolinska University Hospital is available for evaluation and care of those who themselves have or are related to someone with congenital deviations in skeletal development. We conduct diagnosis and follow-up of children, adolescents, and adults.

The expert team has been in existence for more than 20 years at Karolinska University Hospital and has provided outpatient and consultation services for patients within the Stockholm County Council as well as for patients from outside the region. The evaluation and follow-up are based on teamwork between specialists with many years of experience in pediatrics, pediatric and adult endocrinology, clinical genetics, pediatric radiology, pediatric and adult orthopedics, pediatric neurology, pediatric neuro-ophthalmology, neurosurgery, and respiratory physiology. Individual team visits are tailored to the patient's symptoms. On average, patients are seen once a year.

Most children and adolescents with skeletal dysplasia and long-term functional disabilities have an established connection with habilitation services, while others are followed up by their local pediatrician with support from the skeletal dysplasia team.

The team collaborates with other regional centers for rare diagnoses in the country and with skeletal dysplasia experts and laboratories internationally.

In conclusion, skeletal dysplasia are a diverse group of congenital disorders that require a multidisciplinary approach for diagnosis and management. Although there is today no cure for most skeletal dysplasias, early diagnosis and appropriate treatment can significantly improve the quality of life for individuals affected by these conditions.

The symptoms of skeletal dysplasia vary depending on the specific disorder and can range from mild to severe. Some common symptoms include short stature, disproportionate body parts, joint pain and stiffness, spinal abnormalities, and dental problems. In severe cases, skeletal dysplasia can also cause breathing difficulties and neurological complications.

Diagnosing skeletal dysplasia requires a multidisciplinary approach that involves a detailed medical history, physical examination, radiographic studies, and genetic testing. Doctors take into account the patient's growth pattern, body proportions, external physical characteristics, family history, and radiological findings to make an accurate diagnosis. Genetic testing is a crucial diagnostic tool that can identify the specific gene mutations responsible for the disorder.

The treatment of skeletal dysplasia depends on the specific disorder and the severity of the symptoms. This can include physical therapy, orthopedic interventions such as bracing and surgical procedures, and dental care. In some cases, hormone therapy or other medication can be beneficial for improving bone density or height. Additionally, genetic counseling can be helpful for families who are planning to have children and are at risk for passing on the disorder.

Orthopedic surgery

Our aim is to support our patients during the whole journey from diagnosis through treatment and rehabilitation, ensuring that our patients are informed about the options and are involved in treatment plans.   Orthopedic surgery

Pediatric Orthopedics

The Pediatric Orthopaedic Department at Astrid Lindgren Childrens hospital provides excellent care for young patients with musculoskeletal problems age 0-14y. Pediatric Orthopedics
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Astrid Lindgren Children's Hospital
The Astrid Lindgren Children’s Hospital is a part of Karolinska University Hospital, with facilities in several locations in Stockholm.