This web site uses cookies. Do you accept the use of external cookies? Yes No Know more x
Survey about achondroplasia
We have designed a questionnaire with the purpose to better know the population connected to achondroplasia.
The questionnaire is optional and anonymous. The data obtained will be used for statistical purposes and to better understand the natural history of achondroplasia. Please consider answering.
If you would like to take the survey later, you can click on the link at the top "Register at BA"
qol BA2x

Study on quality of life and Psychiatric illness in adults with achondroplasia in the US

The Kathryn O. and Alan C. Greenberg Center for Skeletal Dysplasias (Hospital for Special Surgery, NY), published a study1 on quality of life (QoL) and diagnosis of psychiatric disorders in a group of adults with achondroplasia in the US. The study consists of the application of 36 questions covering 8 health concepts (see below) and subsequent comparison of the results of this health survey to adults with achondroplasia with data from the general population.


1. Physical functioning

2. Limitations due to physical health

3. Pain

4. General health

5. Energy/fatigue

6. Social functioning

7. Limitations due to emotional health

8. Mental health


Study Cohort


Age (years)

Height (cm)

Weight (kg)

BMI (kg/m2)

Women (15)





Men (10)





Table 1 - Source: Yonko, EA, et al.1


Several medical conditions affect the daily life of people with achondroplasia:

  • For instance, 40-70% of people with achondroplasia suffer from chronic back pain, which can be detrimental to daily physical functioning2,3 

  • A cohort of adults with skeletal dysplasias, 56.4% of whom identified with achondroplasia, reported having persistent pain at rates nearly four times that of the general population4,5 
  • Sleep disturbances, linked to breathing, have been studied mainly in children with achondroplasia, but it is also a problem in adults that has a negative impact on QoL6 
  • Hearing problems can result in speech difficulties and learning disabilities7 
  • Unpublished data on hearing screenings obtained from the Center for Skeletal Dysplasias found that 67% of children and 75% of adults with achondroplasia have hearing loss.
  • People with achondroplasia are more prone to obesity, which can contribute to a range of comorbidities including cardiovascular problems, weight-bearing joint pain and spinal stenosis8

  • Society's scrutiny of the short stature individual may also contribute as a stress factor7,9 
  • Activities such as driving a car, cycling or reaching for objects may require adaptations due to short stature and rhizomelia10.



QoL of people with achondroplasia vs general population




Physical functioning



Limitations due to physical health






General health






Social functioning



Limitations due to emotional health



Mental health



Table 2 - Source: Yonko, EA, et al.1


From medical records of demographic data, body measurements and psychiatric illness diagnoses, the study found that the population with achondroplasia has lower scores compared to the general population in all categories:

  • Most people with achondroplasia (56%) had a diagnosed psychiatric illness;
  • People with a diagnosed psychiatric illness had lower scores on physical functioning due to physical, emotional and mental health;
  • Pain, energy/fatigue and general health scale scores were approximately equivalent;
  • Social functioning was >15 points higher in individuals with diagnoses of psychiatric illness;
  • Adults with achondroplasia reported significantly lower physical and mental well-being (with a nearly 3-fold higher rate of psychiatric illness compared to the general population);

Healthcare providers should understand the physical and mental comorbidities of achondroplasia, in addition to short stature and orthopaedic issues, so that they can proactively improve the QoL of people with this condition and their families.

Prevalence of mental health problems in achondroplasia

The most notable finding of this study is the prevalence of psychiatric disorders in adults with achondroplasia compared to that reported in the general population. While 19.1% of the general US population has been diagnosed with psychiatric illness (Substance Abuse & Mental Health Services Administration, 2019), the prevalence of psychiatric disorders in this study group of adults with achondroplasia is almost triple (56% - 14 people), most commonly anxiety and/or depression.

This table compares the QoL of people with achondroplasia involved in the study with and without diagnosed psychiatric illness:


PSY. ILLN. (11)

. (14)

Physical functioning



Limitations due to physical health






General health






Social functioning



Limitations due to emotional health



Mental health



Table 3 - Source: Yonko, EA, et al.1


  • People with diagnosed psychiatric illness reported significantly more limitations compared to participants without diagnosed psychiatric illness. The underlying psychiatric illness may contribute to one' s perception of limitations, or perhaps physical limitations play a role in the development of depressive and anxiety symptoms, or both.
  • Overall, these trends suggest that the presence of a psychiatric illness alters an individual's perception of their limitations and that people with achondroplasia do not need to have pain to feel limited in their overall perception of their health status.
  • The high prevalence of psychiatric disorders and decreased physical and mental functioning underline the need to prioritise mental health care when addressing adults with achondroplasia. Despite the common feature of short stature, each skeletal dysplasia is distinct and thus future studies should consider the diagnoses of achondroplasia and other skeletal dysplasias separately when assessing mental health issues.
  • Further research with larger numbers of participants should be conducted to better understand the factors contributing to mental health disorders in achondroplasia and thus develop interventions for the prevention and treatment of these disorders.
  • Future research on mental and physical health in achondroplasia should improve questionnaires with more specific measures of pain and mental functioning.
  • Person-reported data provide an essential basis for healthcare providers to ask important research questions about QoL in achondroplasia, to help patients and their families understand the implications of mental and physical problems across the lifespan, and to offer treatment for all comorbidities, whether physical or mental in nature. Primary care physicians should examine symptoms of depression and anxiety and refer to the indicated specialty and therapy.




  1. Yonko, EA. et al. Quality of life in adults with achondroplasia in the United States. Am J Med Genet Part A. 2021; 185A: 695– 701.

  2. Alade, Y. et al. (2013). Cross-sectional assessment of pain and physical function in skeletal dysplasia patients. Clinical Genetics, 84(3), 237–243.

  3. Fredwall, S. O. et al. (2019). Current knowledge of medical complications in adults with achondroplasia: A scoping review. Clinical Genetics, 97, 1–19.

  4. Dhiman, N. et al. (2017). Factors associated with healthrelated quality of life (HRQOL) in adults with short stature skeletal dysplasias. Quality of Life Research, 26, 1337–1348. 10.1007/s11136-016-1455-7.

  5. Kennedy, J. et al. (2014). Prevalence of persistent pain in the US adult population: New data from the 2010 national health interview survey. The Journal of Pain, 15(10), 979–984.

  6. Tenconi, R. et al. (2016). Sleep-disordered breathing and its management in children with achondroplasia. American Journal of Medical Genetics, 173, 868–878.

  7. Hunter, A. G. et al. (1998). Medical complications of achondroplasia: A multicentre patient review. Journal of Medical Genetics, 34, 708–712.

  8. Hecht, J. T., et al. (1988). Obesity in Achondroplasia. American Journal of Medical Genetics, 31, 597–602. 1002/ajmg.1320310314.

  9. Adelson, B. M. (2005). Dwarfism: Medical and psychosocial aspects of profound short stature (p. 2). Baltimore and London: The Johns Hopkins University Press, ISBN 0-8018-8122-6.

  10. Hoover-Fong, J., et al. (2020). Health supervision for people with Achondroplasia. Pediatrics, 145(6), e20201010.

To view this site you need Internet Explorer 8 (or a higher version)
or another internet browser.

Thank You.