Referral to National Highly Specialised Care (NHV) in skeletal dysplasia

For general assessment of suspected skeletal dysplasia

In relation to children: 
Attending doctor 
Akademiska barnsjukhuset 
Endokrinmottagningen för barn och ungdom 
751 85 Uppsala

For adults: 
Akademiska sjukhuset 
Endokrin- och diabetesmottagningen 
751 85 Uppsala

Regarding genetic analysis: 
Referrals and lab samples are sent to: 
Klinisk genetik, Akademiska sjukhuset, 751 85 Uppsala. 
Telephone to on-call doctor 018-612 20 18

For targeted questions, referrals can be sent to the units listed below:

Paediatric orthopaedics: 
Ortopedmottagningen för barn och ungdom 
Akademiska barnsjukhuset 
751 85 Uppsala

Adult orthopaedics: 
Akademiska sjukhuset 
Ortopedmottagningen 
751 81 Uppsala

Hand surgery: 
Akademiska sjukhuset 
Handkirurgmottagningen  
751 85 Uppsala  

When should a patient be referred to an NHV unit?

Investigation in case of unclear diagnosis

• Suspected skeletal dysplasia that could not be confirmed after primary investigation.
• Suspicion remains or if a familial predisposition exists.
• Investigation includes clinical examination, radiology, genetic testing and genetic and clinical counselling. 

Assessment and care plan

All patients with established severe skeletal dysplasia must be referred for at least one assessment at the NHV unit to establish a diagnosis-specific care plan.

Decision on advanced treatment

• Refers to the decision to initiate and discontinue advanced treatment when this may be appropriate.
• Advanced treatment means, for example:
• enzyme substitution (e.g. asfotase alfa for hypophosphatasia)
• antibody therapy (e.g. burosumab for X-linked hypophosphatemic rickets)
• receptor antagonists
• stem cell transplantation
• possibly gene therapy  

Treatment and follow-up

There is no curative treatment for most skeletal dysplasias. Care is instead about alleviating symptoms and compensating for disabilities. 
Children and adults with skeletal dysplasia need regular follow-up and are often cared for by multidisciplinary teams with several different specialists.

About skeletal dysplasias

Skeletal dysplasias, or genetic skeletal diseases, are a group of diseases that mainly cause abnormalities in bones and joints. They are caused by changes in the way bones form, develop, move or grow. It can have many different symptoms. Some diseases affect the whole skeleton, others mainly parts such as the ends of the bones or the growth zones. Cartilage and connective tissue can also be affected. This can result in varying degrees of short stature or disproportionate body length, such as short backs or arms and legs, and joint deformities. Some conditions worsen over time.

Most skeletal dysplasias are syndromes, which means that other organs such as the eyes, ears, heart, kidneys and lungs can also be affected. The organs affected depend on the genetic cause. Skeletal dysplasia can be difficult to diagnose. The most common forms, such as achondroplasia, diastrophic dysplasia and cartilage-hair hypoplasia syndrome, are well recognised, but many others are still less well known.

The four regions assigned to the mission:

1. Region Stockholm
2. Region Skåne
3. Region Västra Götaland
4. Region Uppsala

Skeletal dysplasia as National Highly Specialised Care (socialstyrelsen.se)  

Contact us

Coordinator Skeletal Dysplasia, Malin Jerresand 
Telephone: 018-611 43 87 
malin.jerresand@akademiska.se

Process manager, overall responsibility: 
Associate Professor, Head Physician Andreas Kindmark 
Endocrine and diabetes clinic, specialised medicine 
Telephone: 018-611 00 00 
andreas.kindmark@akademiska.se