EARLY
CHILDHOOD
3 to 5 years
Early childhood is a time of growth and newly found independence for children with achondroplasia. This resource can help you navigate the early years.
POTENTIAL MEDICAL COMPLICATIONS
Achondroplasia may be associated with specific medical complications. Most children will not experience all the complications described on this page. For many of these challenges, early intervention is important to avoid potentially serious complications. Learn more about specific health concerns below.
- Buildup of fluid in the brain
- Narrowing at the base of the skull
- Obstructive sleep apnea
- Sweating
- Limited elbow and hip extension
- Loose joints
- Bowed legs
Medical checklist: birth to 5 years
It’s important to make sure your child is having the right examinations at the right times
This printable checklist can help you keep track of your child’s medical visits.
Medical checklist: Birth to 5 years
Download PDF
References
- Afsharpaiman S, et al. Respiratory difficulties and breathing disorders in achondroplasia. Pediatric Respiratory Reviews. 2013. 14(4):250-255.
- Baird D, et al. Diagnosis and treatment of gastroesophageal reflux in infants and children. American Family Physician. 2015. 92(8).
- Campbell J & Dorren N. It’s a Whole New View: A Guide for Raising a Child with Dwarfism. Little People of America, Inc. https://www.lpaonline.org/assets/documents/LPA%20New%20View%20FINAL.%20122806.pdf.
- Collins W & Choi S. Otolaryngolic manifestations of achondroplasia. Archives of Otolaryngology-Head and Neck Surgery. 2007.133:237-244.
- Hoover-Fong J, et al. Health supervision for people with achondroplasia. Pediatrics. 2020;145(6):e20201010.
- Ireland P, et al. Optimal management of complications associated with achondroplasia. The Application of Clinical Genetics. 2014. 7:117-125.
- Legare J, et al. Achondroplasia Natural History Study (CLARITY): 60-year experience in cervicomedullary decompression in achondroplasia from four skeletal dysplasia centers. Journal of Neurosurgery: Pediatrics. 2021. 28:229-235.
- Leung A, et al. Gastroesophageal reflux in children: An updated review. Drugs in Context. 2019. 8:212591.
- Nahm N, et al. Achondroplasia natural history study (CLARITY): 60‑year experience in orthopedic surgery from four skeletal dysplasia centers. Orphanet Journal of Rare Diseases. 2023;18:139.
- Okenfuss E, et al. Natural history of achondroplasia: A retrospective review of longitudinal clinical data. 2020. American Journal of Medical Genetics. 182A:2540-2551.
- Pauli R, et al. Achondroplasia: a comprehensive clinical review. Orphanet Journal of Rare Diseases. 2019;14:1-49.
- Rosenfeld R, et al. Clinical practice guideline: Otitis media with effusion (update). Otolaryngology-Head and Neck Surgery. 2016. 154(IS)S1-S41.
- Ryan A, et al. Fifteen-minute consultation: Paediatric night sweats – when to reassure and when to investigate. Archives of Disease in Childhood: Education and Practice. 2023;108:22–28.
- Savarirayan R, et al. Best practice guidelines in managing the craniofacial aspects of skeletal dysplasia. Orphanet Journal of Rare Diseases. 2021.16(31).
- Savarirayan R, et al. International consensus statement on the diagnosis, multidisciplinary management and lifelong care of individuals with achondroplasia. Nature Reviews Endocrinology. 2022;18:173–189.
- Schilder A, et al. Otitis media. Nature Reviews Disease Primers. 2016;2(1):1–18.
- Sforza E, et al. What to expect of feeding abilities and nutritional aspects in achondroplasia patients: A narrative review. Genes. 2023;14(199).
- Wright M & Irving M. Clinical management of achondroplasia. Archives of Disease in Childhood. 2012. 97(2), 129-134.
Community Connections
“I would tell myself back then [at time of diagnosis], just take a deep breath and let go of the fear a little bit. Fear is normal. Once you are over that fear, you kind of just dive in. You dive into the information, and you educate yourself and learn everything you can learn about achondroplasia and really try to be your kid’s biggest advocate.”
“Typically, with achondroplasia, people focus on height, but there are other important aspects of the condition that impact quality of life.”
“Our daughter is a person. She has feelings. Yes, she may be physically different than other children or other people, but I think that it is important to be aware of those differences without necessarily calling attention to them.”
“I was four years old when my younger brother was born. I was young and didn’t understand what achondroplasia was. I don’t care if my brother is tall or short. I was simply happy to have a younger brother.”
“What I want to convey to society is that rare conditions exist, and there are many people in the world who need help. I genuinely wish that the world would be kinder. I hope people have a level of knowledge that allows them to understand the condition when they see a child that is smaller or looks different.”
“There was some unknown going into the birth. As soon as she was born, the first reaction was, ‘she is beautiful!’”
“Really, we are just like everyone else. We may look different, but we like being treated like everyone else.”
“My friends would describe me as someone with a big personality, very outgoing, and someone that always is smiling. I’m a people person, and I love making people happy.”
“His diagnosis was a major turning point in my life. This was when my new journey as a caregiver and advocate began.”
“Having achondroplasia, you are going to come across challenges consistently. The way you are going to deal with them is really going to impact your life. Yes, I have challenges; obstacles get thrown at me all the time, but it’s the way of going about it and realizing there is so much more to life than having achondroplasia.”
“I see in my future pretty much what anyone else would: graduating school, graduating college, going on to a job I like, starting a family.”
“The greatest joy as a parent is seeing my son be energetic and cheerful. I hope that my son will continue to look forward proudly, hold his head high, and live confidently and cheerfully.”
“We have relied heavily on the community. We are quite appreciative of the community and the resources that are available to help parents, siblings and individuals with achondroplasia. The diversity within this community has been quite enriching on many levels.”
“We were always outside, we always were being competitive, playing sports, just being kids.”
“What we have seen is that she has done a great job of adapting herself, getting creative, doing things a little bit differently, but she always finds a way to be successful.”
“My joy is seeing my child’s daily progress. There were many things she couldn’t do like other children. She is gradually becoming capable of those things, little by little. I realized that it’s okay to grow slowly.”
“Shortly after he was born, he was diagnosed with achondroplasia. At first, I was worried and anxious. However, as I learned about people with achondroplasia who thrive and lead full lives, I gradually began to feel at ease.”