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Table 2 Demographics and skeletal dysplasia diagnosis by gender and age in adults and children/adolescents (n = 150)

From: Development of the Screening Tool for Everyday Mobility and Symptoms (STEMS) for skeletal dysplasia

  Child/adolescent Adults
5–10 years 11–15 years 16–20 years 21–30 years 31–40 years 41–50 years  > 51 years
M F M F M F M F M F M F M F
Achondroplasia 15 15 4 7 5 5 1 5 0 6 3 5 0 5
Osteogenesis imperfecta 4 2 0 6 3 2 3 1 2 8 2 4 0 5
SEDC 0 2 1 0 1 1 2 1 0 0 2 0 0 1
Cartilage hair hypoplasia 0 1 0 0 0 0 0 0 1 0 0 0 0 0
Pseudochondroplasia 1 0 0 0 0 0 0 0 0 0 0 0 1 1
Hypochondroplasia 0 0 0 0 0 0 0 1 1 0 0 0 0 0
Primordial dwarfism 0 1 0 0 0 0 0 0 1 0 0 0 0 0
S’E’MD-Strudwick 0 1 1 0 0 0 0 0 0 0 1 0 0 0
Diastrophic dysplasia 0 2 0 0 0 0 0 0 0 0 0 0 0 0
Metaphysealchondro- dysplasia Schmid 0 0 0 1 0 0 0 0 0 0 0 0 0 0
Leri-Weil dysplasia 0 0 0 1 0 0 0 0 0 0 0 0 0 0
Multiple epiphyseal dysplasia 0 1 1 0 0 0 0 0 0 0 0 0 0 0
Geleophysic dysplasia 0 0 0 0 0 0 0 0 1 0 0 0 0 0
Jeune syndrome 0 0 0 0 0 0 0 0 0 1 0 0 0 0
Ellis-van Creveld syndrome 0 0 0 0 0 0 0 0 0 0 0 1 0 0
Other—total 1 8 3 2 1 1 2 2 4 1 3 1 1 2
Total 20 25 7 15 9 8 6 8 6 15 8 10 1 12
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