Rare Diseases Symptoms Automatic Extraction

Cross-sectional assessment of pain and physical function in skeletal dysplasia patients.

[achondroplasia]

Short stature skeletal dysplasia (SD) patients have orthopedic and neurologic complications causing significant pain and physical disability. We conducted a large cross-sectional online survey in 361 people with short stature SD (>10 years) to describe pain prevalence, characteristics, and the relationship between pain and function. Chronic pain prevalence per Brief Pain Inventory (BPI) was 70.3%. Women reported more pain than men (73% vs 63% p = 0.04). Pain Severity Score (average of current, worst, least and average pain) averaged 3.3 ± 2, while the Pain Interference Score (with daily activities) averaged 3.4 ± 2.7 on a 10-point scale. Per Bleck scale, 20.5% had little or no functional capacity. Increasing age and decreased ambulation independently predicted chronic pain. Chronic pain is prevalent in short stature SD patients and associated with poor physical function. Further study is required to clarify the temporal relationship among pain, function and treatments.

Diseases presenting "short stature" symptom

  • 22q11.2 deletion syndrome
  • achondroplasia
  • alpha-thalassemia
  • aromatase deficiency
  • child syndrome
  • classical phenylketonuria
  • coats disease
  • cohen syndrome
  • congenital adrenal hyperplasia
  • cowden syndrome
  • dentin dysplasia
  • dentinogenesis imperfecta
  • fabry disease
  • hirschsprung disease
  • holt-oram syndrome
  • kabuki syndrome
  • kallmann syndrome
  • kindler syndrome
  • monosomy 21
  • oculocutaneous albinism
  • oligodontia
  • omenn syndrome
  • proteus syndrome
  • werner syndrome
  • wolf-hirschhorn syndrome
  • zellweger syndrome

This symptom has already been validated