INFANCY +
TODDLERHOOD
Birth to 2 years
Do you think your infant or toddler may have achondroplasia? Have they already been diagnosed? This resource can help you learn more and find support.
References
- Afsharpaiman S, et al. Respiratory difficulties and breathing disorders in achondroplasia. Pediatric Respiratory Reviews. 2013;14(4):250-255.
- American Lung Association. Oxygen Therapy: Traveling with Oxygen. https://www.lung.org/lung-health-diseases/lung-procedures-and-tests/oxygen-therapy/traveling-with-oxygen. Accessed 14 March 2023.
- Baird D, et al. Diagnosis and treatment of gastroesophageal reflux in infants and children. American Family Physician. 2015. 92(8).
- Chitty L, et al. New aids for the non-invasive prenatal diagnosis of achondroplasia: dysmorphic features, charts of fetal size and molecular confirmation using cell-free fetal DNA in maternal plasma. Ultrasound in Obstetrics & Gynecology. 2011;37:283-289.
- Chou Y, et al. Evaluation of feeding difficulties using videofluoroscopic swallow study and swallowing therapy in infants and children. Pediatrics and Neonatology. 2023;64:547-553.
- Collins W & Choi S. Otolaryngolic manifestations of achondroplasia. Archives of Otolaryngology-Head and Neck Surgery. 2007.133:237-244.
- HealthyChildren.Org. When your baby needs oxygen at home. https://www.healthychildren.org/English/ages-stages/baby/preemie/Pages/When-Baby-Needs-Oxygen-At-Home.aspx. Accessed 14 March 2024.
- 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.
- Krakow D, et al. Guidelines for the prenatal diagnosis of fetal skeletal dysplasias. Genetics in Medicine. 2009;11:127-133.
- 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. 8:21259.
- Monedero P, et al. Is management of anesthesia in achondroplastic dwarfs really a challenge? Journal of Clinical Anesthesia. 1997. 9:208–212.
- 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 regarding prenatal evaluation and delivery of patients with skeletal dysplasia. American Journal of Obstetrics & Gynecology. 2018;219(6):545-562.
- 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).
- Umay E, et al. Pediatric dysphagia overview: Best practice recommendation study by multidisciplinary experts. World Journal of Pediatrics. 2022;18(11):715–724.
- White K, et al. Best practices in the evaluation and treatment of foramen magnum stenosis in achondroplasia during infancy. American Journal of Medical Genetics. 2016;170(1):42-51.
- Wright M & Irving M. Clinical management of achondroplasia. Archives of Disease in Childhood. 2012. 97(2),129-134.
Community Connections
“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.”
“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.”
“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.”
“His diagnosis was a major turning point in my life. This was when my new journey as a caregiver and advocate began.”
“Typically, with achondroplasia, people focus on height, but there are other important aspects of the condition that impact quality of life.”
“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.”
“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.”
“Really, we are just like everyone else. We may look different, but we like being treated like everyone else.”
“There was some unknown going into the birth. As soon as she was born, the first reaction was, ‘she is beautiful!’”
“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.”
“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 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.”
“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.”
“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.”
“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.”
“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.”
“We were always outside, we always were being competitive, playing sports, just being kids.”