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Take a Deeper Dive

Discover something you didn’t know about achondroplasia—in 5 minutes

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A Deeper Dive

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40% of achondroplasia cases occur in children of parents who do not have achondroplasia.

TRUE

FALSE

40% of achondroplasia cases occur in children of parents who do not have achondroplasia.

False

80% of cases occur in children of parents who do not have achondroplasia, which means they need expertise to prepare for the multisystemic complications caused by impaired bone growth.1,2

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References: 1. Hecht JT, Bodensteiner JB, Butler IJ. Neurologic manifestations of achondroplasia. Handb Clin Neurol. 2014;119(3):551-563. doi: 10.1016/B978-0-7020-4086-3.00036-9. 2. Pauli RM. Achondroplasia: a comprehensive clinical review. Orphanet J Rare Dis. 2019;14(1):1-49. doi: 10.1186/s13023-018-0972-6.

Intramembranous ossification occurs at the growth plate of long bones.

TRUE

FALSE

Intramembranous ossification occurs at the growth plate of long bones.

False

Intramembranous ossification predominantly occurs in the flat bones of the face and skull,1 while endochondral ossification occurs at the growth plate of 90% of the bones in the body.2,3

Hear more from experts about endochondral ossification

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References: 1. Xie Y, Zhou S, Chen H, Du X, Chen L. Recent research on the growth plate: advances in fibroblast growth factor signaling in growth plate development and disorders. J Mol Endocrinol. 2014;53(1):T11-T34. doi: 10.1530/JME-14-0012. 2. Berendsen AD, Olsen BR. Bone development. Bone. 2015;80:14-18. doi: 10.1016/j.bone.2015.04.035. 3. Clarke B. Normal bone anatomy and physiology. Clin J Am Soc Nephrol. 2008;3(Suppl 3):S131-S139. doi: 10.2215/CJN.04151206.

Achondroplasia is caused by a gain-of-function mutation in the fibroblast growth receptor 3 (FGFR3) gene.

TRUE

FALSE

Achondroplasia is caused by a gain-of-function mutation in the fibroblast growth receptor 3 (FGFR3) gene.

True

Achondroplasia is caused by a gain-of-function mutation in the FGFR3 gene, which causes it to become overactive and send more signals to slow bone growth than is typical. It can be inherited, but more often occurs spontaneously.1

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Reference: 1. Hecht JT, Bodensteiner JB, Butler IJ. Neurologic manifestations of achondroplasia. Handb Clin Neurol. 2014;119(3):551-563. doi: 10.1016/B978-0-7020-4086-3.00036‑9.

Upon diagnosis, referral to a neurosurgical specialist may be needed.

TRUE

FALSE

Upon diagnosis, referral to a neurosurgical specialist may be needed.

True

Once a diagnosis of achondroplasia is confirmed, every infant should be examined for craniocervical junction risks and referred to a neurosurgical specialist, if necessary.1

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Reference: 1. Hoover-Fong J, Scott CI, Jones MC; Committee on Genetics. Health supervision for people with achondroplasia. Pediatrics. 2020;145(6):e20201010. doi: 10.1542/peds.2020-1010.

There are increased cardiovascular risks as a person with achondroplasia matures.

TRUE

FALSE

There are increased cardiovascular risks as a person with achondroplasia matures.

True

Individuals with achondroplasia have an increased risk of cardiovascular complications as they mature.

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Reference: 1. 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(21):2502-2511. doi: 10.1002/ajmg.a.31919.

Children with achondroplasia only require medical care for physical challenges.

TRUE

FALSE

Children with achondroplasia only require medical care for physical challenges.

False

Children with achondroplasia may also face functional and psychosocial challenges, especially as they enter school and transition into puberty.1-3

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References: 1. Hoover-Fong J, Scott CI, Jones MC; Committee on Genetics. Health supervision for people with achondroplasia. Pediatrics. 2020;145(6):e20201010. doi: 10.1542/peds.2020-1010. 2. Wright MJ, Irving MD. Clinical management of achondroplasia. Arch Dis Child. 2012;97(2):129-134. doi: 10.1136/adc.2010.189092. 3. 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. doi: 10.1111/j.1469-8749.2011.04050.x.

Children and adolescents with achondroplasia should have care coordinated through a patient advocacy group.

TRUE

FALSE

Children and adolescents with achondroplasia should have care coordinated through a patient advocacy group.

False

Because complications related to achondroplasia are well documented, the need for timely referrals and a reliable expert at the center of care are recommended to help coordinate support and identify any complications for proactive management.1

Hear more from experts about specialist referrals

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Reference: 1. Hoover-Fong J, Scott CI, Jones MC; Committee on Genetics. Health supervision for people with achondroplasia. Pediatrics. 2020;145(6):e20201010. doi: 10.1542/peds.2020-1010.

As they get older, teenagers and adults with achondroplasia should receive both a general and a neurologically oriented physical examination for signs of nerve compression and other complications associated with spinal stenosis.

TRUE

FALSE

As they get older, teenagers and adults with achondroplasia should receive both a general and a neurologically oriented physical examination for signs of nerve compression and other complications associated with spinal stenosis.

True

As people with achondroplasia become older, a general and neurologically oriented physical examination is recommended to monitor for any signs or symptoms of nerve compression and to check deep tendon reflexes, tone, and sensory findings.1‑4

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References: 1. 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. doi: 10.1002/ajmg.1320320421. 2. 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. doi: 10.1016/j.jpeds.2009.04.031. 3. Hoover-Fong J, Scott CI, Jones MC; Committee on Genetics. Health supervision for people with achondroplasia. Pediatrics. 2020;145(6):e20201010. doi: 10.1542/peds.2020-1010. 4. Wright MJ, Irving MD. Clinical management of achondroplasia. Arch Dis Child. 2012;97(2):129-134. doi: 10.1136/adc.2010.189092.

Referring patients to a mental health professional is likely not necessary prior to adulthood.

TRUE

FALSE

Referring patients to a mental health professional is likely not necessary prior to adulthood.

False

In addition to addressing physical complications, patients should be referred to mental health professionals as appropriate, at any age.1,2

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References: 1. Unger S, Bonafé L, Gouze E. Current care and investigational therapies in achondroplasia. Curr Osteoporos Rep. 2017;15(2):53-60. doi: 10.1007/s11914-017-0347-2. 2. Nishimura N, Hanaki K. Psychosocial profiles of children with achondroplasia in terms of their short stature-related stress: a nationwide survey in Japan. J Clin Nurs. 2014;23(21-22):3045-3056. doi: 10.1111/jocn.12531.

There are no FDA-approved therapies that address the underlying cause of impaired bone growth in achondroplasia.

TRUE

FALSE

There are no FDA-approved therapies that address the underlying cause of impaired bone growth in achondroplasia.

True

Current management does not address the underlying cause of achondroplasia and is limited to management of complications and comorbidities.1

See Results

Reference: 1. Laederich MB, Horton WA. Achondroplasia: pathogenesis and implications for future treatment. Curr Opin Pediatr. 2010;22(4):516-523. doi: 10.1097/MOP.0b013e32833b7a69.