Optimal management of complications associated with achondroplasia

Abstract

Achondroplasia is the most common form of skeletal dysplasia, resulting in disproportionate short stature, and affects over 250,000 people worldwide. Individuals with achondroplasia demonstrate a number of well-recognized anatomical features that impact on growth and development, with a complex array of medical issues that are best managed through a multidisciplinary team approach. The complexity of this presentation, whereby individual impairments may impact upon multiple activity and participation areas, requires consideration and discussion under a broad framework to gain a more thorough understanding of the experience of this condition for individuals with achondroplasia. This paper examines the general literature and research evidence on the medical and health aspects of individuals with achondroplasia and presents a pictorial model of achondroplasia based on The International Classification of Functioning, Disability, and Health (ICF). An expanded model of the ICF will be used to review and present the current literature pertaining to the musculoskeletal, neurological, cardiorespiratory, and ear, nose, and throat impairments and complications across the lifespan, with discussion on the impact of these impairments upon activity and participation performance. Further research is required to fully identify factors influencing participation and to help develop strategies to address these factors.

Current knowledge of medical complications in adults with achondroplasia: A scoping review

“…Some of the excluded papers provide valuable information on adults with achondroplasia and important aspects of living with a skeletal dysplasia, but did not meet the inclusion criteria for the present scoping review. The most relevant papers are presented in Table .…”

“…Achondroplasia is the most common skeletal dysplasia resulting in disproportional short stature, and is in about 99% of the cases caused by a mutation (Gly380Arg) in the gene coding for the fibroblast growth factor receptor 3 ( FGFR3 ) . A high prevalence of medical complications has been reported in children with achondroplasia, including increased mortality, foramen magnum stenosis, hydrocephalus, sleep apnea, recurrent ear infections, impaired hearing, and leg and spine deformities . Several authors have reviewed the existing literature regarding children (0‐16 years) with achondroplasia, and have proposed recommendations for follow‐up and surveillance .…”

Current Care and Investigational Therapies in Achondroplasia

“…This skeletal dysplasia is the most common form of short limb dwarfism and was first reported in 1878 [1]. It is estimated that it affects approximately 250,000 people worldwide [2•, 3, 4]. The incidence is estimated to be 1 in 10,000 to 30,000 live births per year [5], affecting both males and females with equal frequency.…”

Severe pneumonia leading to death in an achondroplasic infant: a rare case report

“…9,10 Future and ongoing evaluation of the prevalence and impact of respiratory disorders in achondroplasia are recommended.…”