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For Patients & Caregivers

HEIGHT IS A METRIC—HEALTH IS THE FOCUS

Impaired endochondral bone growth can result in serious, progressive, multisystemic complications1

Short stature is often the most immediate visual manifestation of achondroplasia; however, complications develop as a result of impaired bone growth. This includes broader future-health implications, such as reduced life expectancy due to obesity and cardiovascular issues.1-3

Familiarise yourself with the affected systems

Interact with each area for more detail

Touch to reveal the impacted systems

Neurological
Otolaryngological
Spinal
Musculoskeletal
Body

While there is no impact on cognitive functioning, children with achondroplasia are faced with musculoskeletal, otolaryngological, neurological, and spinal complications, a number of which may require surgery to be corrected.1-3

Make sure you’re prepared

The most effective management of achondroplasia means anticipating specific complications at every stage of development.

Common complications can be expected across a patient’s lifetime

Keep these complications top-of-mind to help give families a holistic perspective of what to watch out for:2-9

Sleep disordered breathing

Sleep disordered breathing

Affects >50% of people with achondroplasia

Otitis media

Otitis media

Affects up to 70% of children

Genu varum

Genu varum (tibial bowing)

Can affect walking and running

Dental issues

Dental issues

Crowded teeth and a narrow upper jaw may lead to a crossbite

Symptomatic spinal stenosis

Symptomatic spinal stenosis

Can lead to leg weakness, incontinence, and chronic pain

Elbow stiffness

Elbow stiffness

Limits their range of motion

Chronic Pain

Chronic pain

Can result in loss of mobility

Obesity

Obesity

Can lead to high blood pressure or heart disease

Lumbar hyperlordosis

Lumbar hyperlordosis

May require physical therapy

Visualising a lifetime of achondroplasia

Although some comorbidities can resolve over time, anticipatory management can help mitigate serious, otherwise unexpected health complications. Explore this interactive timeline for a deeper understanding of the preparations that can be made.2

Impaired bone development affects the entire body, and its impact on the size and shape of the foramen magnum can lead to cervicomedullary compression. This can put infants at risk for sudden death, making regular monitoring, management, and timely referrals crucial for this stage.2,3,7,10-16

It is important to keep an eye on complications that can quickly—and quietly—progress.

In addition to the continued risk of sudden death due to cervicomedullary compression, toddlers can experience developmental delays and other complications that will require familial expectation-setting and potential surgical intervention.2,5,7,11-14,17-20

Throughout their childhood, it’s important to keep an eye out for otolaryngologic, respiratory, and orthopaedic issues that have the potential to delay developmental milestones if left untreated. Cognition is not affected.2,7,13,19,20-24

At this age, the psychosocial impact of achondroplasia (depression, anxiety, isolation) can begin to impact school performance and social interaction.20,25

Teenage years are a time of great transition for everyone, and while certain medical complications may persist, the functional and emotional implications of living with achondroplasia may become more pronounced. Working with parents, caregivers, and patients to address all challenges holistically throughout this time is essential to promoting independence and a strong self-esteem.2,5,7,25

Managing both the psychosocial impact and functional challenges of achondroplasia can help in making a smooth transition into adulthood, including higher education pursuits and establishing healthy social networks.

As a person with achondroplasia reaches adulthood, some medical complications may resolve, but many may progress, developing into more serious and potentially life-threatening comorbidities. Facilitating a relationship between your patient and the other specialists in their care team is a crucial part of ongoing management. Anticipatory management of this lifelong impact can help mitigate its severity.2,3,7-9,17,26,27

Gynaecological and obstetric considerations must be addressed, as well as ongoing functional and psychosocial challenges.28,29

Psychosocial impact

Psychosocial impact

Psychosocial impact

Central sleep apnoea

Can contribute to learning and developmental delays

Orthodontic issues

Differential growth of the cranial base can lead to malocclusion. Crowded teeth and a narrow upper jaw may lead to a crossbite

Delayed developmental milestones

Gross motor delays related to hypotonia and speech delays due to acute and chronic otitis media

Upper airway obstruction

Upper airway obstruction

One third of children may require surgical intervention

One third of children may require surgical intervention

Lumbar spinal stenosis

Lumbar spinal stenosis

Most people with achondroplasia will deal with this to some degree—surgical intervention is not always necessary

Most people with achondroplasia will deal with this to some degree—surgical intervention is not always necessary

Lumbar hyperlordosis

Exaggerated curve at the top of the spine may appear before age 5

Mortality

Over time, cardiovascular complications can lead to lower life expectancy

Chronic pain

Chronic pain

May limit participation in social activities, ongoing education, and activities of daily life

Many factors can lead to chronic pain, including tibial bowing and spinal stenosis

Osteoporosis

Limited participation in recreational activities may contribute to low bone density

Obesity

Obesity

Directly linked to sleep apnoea and cardiovascular disease later in life

One of the most prevalent and critical factors in adulthood is obesity, which is directly linked to sleep apnoea and cardiovascular disease

Functional challenges

Functional challenges

Functional challenges

Kyphosis

Exaggerated outward curve of the spine—requires special attention to posture while sitting

Genu varum

Genu varum

Disproportionate growth of the tibia and fibula can lead to tibial bowing, which is often progressive

Disproportionate growth of the tibia and fibula, which can lead to tibial bowing, is often progressive in childhood but can resolve with skeletal maturity. Often surgically corrected in childhood, but as many as 40% of adults with achondroplasia may still have significant tibial bowing which can contribute to pain.

Hypotonia

Reduced muscle strength

Can delay motor skills

May be significantly reduced in dorsal extensors of the wrist, hip flexors, knee extensors, and dorsal flexors of the foot

Speech difficulties

Speech difficulties

Incidence of delayed speech and problems in articulation occur in 20% and 11% of children with achondroplasia, respectively

Delayed speech and problems with articulation remain constant during the adolescent years

Sleep disordered breathing

Obstructive sleep apnoea is the most common respiratory disorder in children with achondroplasia

Recurrent otitis media

Recurrent otitis media

Recurrent otitis media

Hearing impairments

Midface hypoplasia, shortened Eustachian tubes, and a small pharynx can begin in infancy and lead to conductive hearing loss in the first year

Midface hypoplasia, shortened Eustachian tubes, and a small pharynx can begin in infancy and lead to conductive hearing loss

Midface hypoplasia, shortened Eustachian tubes, and a small pharynx can begin in infancy and lead to conductive hearing loss

Incidence of hearing loss in children <18 years with achondroplasia is ~25%

Foramen magnum stenosis

Foramen magnum stenosis

Diminished size of the cranial base with resulting compression of the lower brain-stem/upper cervical spinal cord can lead to sudden and fatal complications (cervicomedullary compression)

Diminished size of the cranial base—and the resulting compression of the lower brain-stem/upper cervical spinal cord—can lead to sudden and fatal complications (cervicomedullary compression)

Central sleep apnoea

Can contribute to learning and developmental delays

Delayed developmental milestones

Gross motor delays related to hypotonia and speech delays due to acute and chronic otitis media

Upper airway obstruction

One third of children may require surgical intervention

Hypotonia

Can delay motor skills

Recurrent otitis media

Midface hypoplasia, shortened Eustachian tubes, and a small pharynx can begin in infancy and lead to conductive hearing loss in the first year

Foramen magnum stenosis

Diminished size of the cranial base with resulting compression of the lower brain-stem/upper cervical spinal cord can lead to sudden and fatal complications (cervicomedullary compression)

Upper airway obstruction

One third of children may require surgical intervention

Kyphosis

Exaggerated outward curve of the spine—requires special attention to posture while sitting

Genu varum

Disproportionate growth of the tibia and fibula can lead to tibial bowing, which is often progressive

Speech difficulties

Incidence of delayed speech and problems in articulation occur in 20% and 11% of children with achondroplasia, respectively

Recurrent otitis media

Midface hypoplasia, shortened Eustachian tubes, and a small pharynx can begin in infancy and lead to conductive hearing loss

Foramen magnum stenosis

Diminished size of the cranial base—and the resulting compression of the lower brain-stem/upper cervical spinal cord—can lead to sudden and fatal complications (cervicomedullary compression)

Psychosocial impact

Learn more about the emotional impact of achondroplasia

Orthodontic issues

Differential growth of the cranial base can lead to malocclusion. Crowded teeth and a narrow upper jaw may lead to a crossbite

Lumbar hyperlordosis

Exaggerated curve at the top of the spine may appear before age 5

Obesity

Directly linked to sleep apnoea and cardiovascular disease later in life

Functional challenges

Learn more about the functional challenges of achondroplasia

Genu varum

Disproportionate growth of the tibia and fibula, which can lead to tibial bowing, is often progressive in childhood but can resolve with skeletal maturity. Often surgically corrected in childhood, but as many as 40% of adults with achondroplasia may still have significant tibial bowing which can contribute to pain.

Reduced muscle strength

May be significantly reduced in dorsal extensors of the wrist, hip flexors, knee extensors, and dorsal flexors of the foot

Sleep disordered breathing

Obstructive sleep apnoea is the most common respiratory disorder in children with achondroplasia

Recurrent otitis media

Midface hypoplasia, shortened Eustachian tubes, and a small pharynx can begin in infancy and lead to conductive hearing loss

Psychosocial impact

Learn more about the emotional impact of achondroplasia

Lumbar spinal stenosis

Most people with achondroplasia will deal with this to some degree—surgical intervention is not always necessary

Chronic pain

May limit participation in social activities, ongoing education, and activities of daily life

Functional challenges

Learn more about the functional challenges of achondroplasia

Speech difficulties

Delayed speech and problems with articulation remain constant during the adolescent years

Hearing impairments

Incidence of hearing loss in children <18 years with achondroplasia is ~25%

Psychosocial impact

Learn more about the emotional impact of achondroplasia

Lumbar spinal stenosis

Most people with achondroplasia will deal with this to some degree—surgical intervention is not always necessary

Mortality

Over time, cardiovascular complications can lead to lower life expectancy

Chronic pain

Many factors can lead to chronic pain, including tibial bowing and spinal stenosis

Osteoporosis

Limited participation in recreational activities may contribute to low bone density

Obesity

One of the most prevalent and critical factors in adulthood is obesity, which is directly linked to sleep apnoea and cardiovascular disease

Functional challenges

Learn more about the functional challenges of achondroplasia

Holistic treatment must also consider functional challenges and psychosocial impact

Children with achondroplasia may face both functional and psychosocial challenges, especially as they enter school and transition into puberty. Setting expectations will better equip parents to support their child’s needs.2,18,20

  • Communication milestones (words, sentences), learning, and performance at school can be impacted by speech delay due to hearing loss (otitis media) or the progressive impact of sleep apnoea3,16
  • Development milestones for gross and fine motor skills can be affected by length of fingers and trident shape of hands3,30
  • Functional impairment can result in limited mobility and independence, especially until age 618
  • Restricted access to body for bathing, toileting, and other personal care18,20
  • Social participation may be hindered due to anxiety or diminished self-esteem and can contribute to isolation25
  • Functional challenges are often overcome through environmental adaptations or special tools, such as pedal extenders for driving2
Child doing homework

In achondroplasia, complications are not thought to affect cognition13,21

Understanding a lifetime of management

Achondroplasia can be overwhelming if foreseeable complications are not properly planned for. Proactive management of complications is important to ensure optimal care for people with achondroplasia.

References: 1. Ireland PJ, Pacey V, Zankl A, Edwards P, Johnston LM, Savarirayan R. Optimal management of complications associated with achondroplasia. Appl Clin Genet. 2014;7:117-125. Published online June 24, 2014. 2. Hoover-Fong J, Scott CI, Jones MC; Committee on Genetics. Health supervision for people with achondroplasia. Pediatrics. 2020;145(6):e20201010. 3. Pauli RM. Achondroplasia: a comprehensive clinical review. Orphanet J Rare Dis. 2019;14(1):1. 4. Unger S, Bonafé L, Gouze E. Current care and investigational therapies in achondroplasia. Curr Osteoporos Rep. 2017;15(2):53-60. 5. Shirley ED, Ain MC. Achondroplasia: manifestations and treatment. J Am Acad Orthop Surg. 2009;17(4):231-241. 6. Ain MC, Abdullah MA, Ting BL, et al. Progression of low back and lower extremity pain in a cohort of patients with achondroplasia. J Neurosurg Spine. 2010;13(3):335-340. 7. Hunter AG, Bankier A, Rogers JG, Sillence D, Scott CI Jr. Medical complications of achondroplasia: a multicentre patient review. J Med Genet. 1998;35(9):705-712. 8. Hecht JT, Hood OJ, Schwartz RJ, Hennessey JC, Bernhardt BA, Horton WA. Obesity in achondroplasia. Am J Med Genet. 1988;31(3):597-602. 9. Fredwall SO, Maanum G, Johansen H, Snekkevik H, Savarirayan R, Lidal IB. Current knowledge of medical complications in adults with achondroplasia: a scoping review. Clin Genet. 2020;97(1):179-197. 10. Ednick M, Tinkle BT, Phromchairak J, Egelhoff J, Amin R, Simakajornboon N. Sleep-related respiratory abnormalities and arousal pattern in achondroplasia during early infancy. J Pediatr. 2009;155(4):510-515. 11. Hecht JT, Horton WA, Reid CS, Pyeritz RE, Chakraborty R. Growth of the foramen magnum in achondroplasia. Am J Med Genet. 1989;32(4):528-535. 12. Julliand S, Boulé M, Baujat G, et al. Lung function, diagnosis, and treatment of sleep-disordered breathing in children with achondroplasia. Am J Med Genet A. 2012;158A(8):1987-1993. 13. Brinkmann G, Schlitt H, Zorowka P, Spranger J. Cognitive skills in achondroplasia. Am J Med Genet. 1993;47(5):800-804. 14. Tunkel D, Alade Y, Kerbavaz R, Smith B, Rose-Hardison D, Hoover-Fong J. Hearing loss in skeletal dysplasia patients. Am J Med Genet A. 2012;158A(7):1551-1555. 15. Horton WA, Hall JG, Hecht JT. Achondroplasia. Lancet. 2007;370(9582):162-172. 16. Ireland PJ, Johnson S, Donaghey S, et al. Developmental milestones in infants and young Australasian children with achondroplasia. J Dev Behav Pediatr. 2010;31(1):41-47. 17. Hecht JT, Francomano CA, Horton WA, Annegers JF. Mortality in achondroplasia. Am J Hum Genet. 1987;41(3):454-464. 18. Ireland PJ, McGill J, Zankl A, et al. Functional performance in young Australian children with achondroplasia. Dev Med Child Neurol. 2011;53(10):944-950. 19. Stanley G, McLoughlin S, Beals RK. Observations on the cause of bowlegs in achondroplasia. J Pediatr Orthop. 2002;22(1):112-116. 20. Wright MJ, Irving MD. Clinical management of achondroplasia. Arch Dis Child. 2012;97(2):129-134. 21. Galasso C, Siracusano M, El Malhany N, Cerminara C, Pitzianti M, Terribili M. Cognitive phenotype and language skills in children with achondroplasia. Minerva Pediatr. 2019;71(4):343-348. 22. Afsharpaiman S, Saburi A, Waters KA. Respiratory difficulties and breathing disorders in achondroplasia. Paediatr Respir Rev. 2013;14(4):250-255. 23. Takken T, van Bergen MW, Sakkers RJ, Helders PJ, Engelbert RH. Cardiopulmonary exercise capacity, muscle strength, and physical activity in children and adolescents with achondroplasia. J Pediatr. 2007;150(1):26-30. 24. Lee ST, Song HR, Mahajan R, Makwana V, Suh SW, Lee SH. Development of genu varum in achondroplasia: relation to fibular overgrowth. J Bone Joint Surg Br. 2007;89(1):57-61. 25. Thompson S, Shakespeare T, Wright MJ. Medical and social aspects of the life course for adults with a skeletal dysplasia: a review of current knowledge. Disabil Rehabil. 2008;30(1):1-12. 26. Wynn J, King TM, Gambello MJ, Waller DK, Hecht JT. Mortality in achondroplasia study: a 42-year follow-up. Am J Med Genet A. 2007;143A:2502–2511. 27. Taşoğlu Ö, Şahin Onat Ş, Yenigün D, Doğan Aslan M, Nakipoğlu GF, Ozgirgin N. Low bone density in achondroplasia. Clin Rheumatol. 2014;33(5):733-735. 28. Vivanti AJ, Cordier AG, Baujat G, Benachi A. Abnormal pelvic morphology and high cervical length are responsible for high-risk pregnancies in women displaying achondroplasia. Orphanet J Rare Dis. 2016;11(1):166. 29. Allanson JE, Hall JG. Obstetric and gynecologic problems in women with chondrodystrophies. Obstet Gynecol. 1986;67(1):74-78. 30. Legare JM. Achondroplasia. In: Adam MP, Ardinger HH, Pagon RA, et al, eds. GeneReviews® [Internet]. Seattle: University of Washington, Seattle; 1993-2020. October 12, 1998 [Updated August 6, 2020]. https://www.ncbi.nlm.nih.gov/books/NBK1152.