Table 2 Diagnostic groups and diseases reported in included articles

Rare genetic inborn metabolism disease

 Fabry disease

1

 Gaucher disease type 1

1

 Glycogen storage disease type 1

1

 Pompe disease

3

 Porphyria

2

 Familial chylomicronemia syndrome

2

Rare genetic bone diseases:

 Multiple osteochondromas

2

 Osteogenesis imperfecta

4

 X-linked hypophosphatemia

4 (1 review)

 Primary bone dysplasia/short stature*

3

 Achondroplasia*

3

 Diastrophic dysplasia, (Diastrophic dwarfism) *

1

 Fibrous dysplasia

1

Rare genetic haematological disease:

 Haemophilia

22 (2 reviews)

 Congenital factor VII deficiency

1

 Chronic coagulation disorder

1

Rare genetic neurologic diseases

 Charcot-Marie-Tooth disease (hereditary motor and sensory neuropathy type 1)

4

 Duchenne muscular dystrophy

1

   65

 Facioscapulohumeral muscular dystrophy

1

 Limb-girdle muscle dystrophy

1

 Muscular dystrophies (mixed population)

1

 Myotonic dystrophy

4

Rare genetic developmental defect during embryogenesis

 Neurofibromatosis

9

  1205

 Spinal muscular atrophy type 2

4

 Turner syndrome

9

 X-linked Emery-Dreifuss muscular dystrophy

1

 22q11.2 deletion syndrome

1

Rare systemic and rheumatologic diseases

 Hereditary angioedema

2

Rare genetic respiratory diseases

 Cystic Fibrosis (2 review)

32 (2 reviews)

Rare surgical thoracic diseases

 Marfan syndrome (2 review)

14 (2 reviews)

 Loeys-Dietz syndrome and vascular Ehlers-Danlos syndrome (mixed populations)

2

 Rare disease with thoracic aortic aneurysm and aortic dissection (mixed populations)

3