Related Experiment Video

Updated: Oct 6, 2025

The Use of Mixed Reality in Custom-Made Revision Hip Arthroplasty: A First Case Report
07:45

The Use of Mixed Reality in Custom-Made Revision Hip Arthroplasty: A First Case Report

Published on: August 4, 2022

3.5K

Disease-specific complications and multidisciplinary interventions in achondroplasia

Hiroshi Kitoh1,2, Masaki Matsushita3, Kenichi Mishima3

  • 1Department of Orthopaedic Surgery, Aichi Children's Health and Medical Center, 7-426 Morioka, Obu, Aichi, 474-8710, Japan. hkitoh420@gmail.com.

Journal of Bone and Mineral Metabolism
|January 14, 2022
PubMed

Insights

Achondroplasia (ACH), a common skeletal dysplasia caused by FGFR3 gene mutations, leads to various lifelong complications. This review details ACH complications and multidisciplinary interventions, proposing strategies to improve adult quality of life.

Area of Science:

  • Genetics and Molecular Biology
  • Pediatric Endocrinology
  • Skeletal Dysplasias

Background:

  • Achondroplasia (ACH) is the most prevalent skeletal dysplasia, characterized by disproportionate short stature and distinct physical features.
  • ACH is genetically determined by activating mutations in the fibroblast growth factor receptor 3 (FGFR3) gene.
  • Patients with ACH experience a high burden of medical complications throughout their lives, impacting various organ systems.

Purpose of the Study:

  • To comprehensively review the spectrum of achondroplasia-specific complications across all age groups, from neonates to adults.
  • To report current multidisciplinary interventions for managing diverse achondroplasia-related medical issues.
  • To propose future treatment strategies for children with ACH, focusing on enhancing long-term quality of life in adulthood.

Main Methods:

  • Systematic literature review of achondroplasia complications and management strategies.
  • Analysis of disease-specific challenges encountered at different life stages (neonatal, infant, childhood, adolescent, adult).
  • Synthesis of current clinical practices and emerging therapeutic approaches, including FGFR3 modulators like vosoritide.

Main Results:

  • Achondroplasia presents with a wide array of complications including obstructive apnea, foramen magnum stenosis, hydrocephalus, developmental delay, obesity, and spinal stenosis.
  • These complications necessitate lifelong, multidisciplinary medical and surgical interventions.
  • Emerging therapies targeting FGFR3 signaling show promise for managing achondroplasia.

Conclusions:

  • Effective management of achondroplasia requires a comprehensive, age-appropriate, multidisciplinary approach to address its complex and varied complications.
  • Future treatment strategies should prioritize improving functional outcomes and quality of life for individuals with achondroplasia into adulthood.
  • Continued research into novel therapeutic targets, such as FGFR3 modulation, is crucial for advancing achondroplasia care.

Keywords:
AchondroplasiaComplicationsCurrent managementQuality of lifeTherapeutic strategy

More Related Videos

A Rat Tibial Growth Plate Injury Model to Characterize Repair Mechanisms and Evaluate Growth Plate Regeneration Strategies06:53

A Rat Tibial Growth Plate Injury Model to Characterize Repair Mechanisms and Evaluate Growth Plate Regeneration Strategies

Published on: July 4, 2017

11.2K
Treatment of Osteochondral Defects in the Rabbit's Knee Joint by Implantation of Allogeneic Mesenchymal Stem Cells in Fibrin Clots11:22

Treatment of Osteochondral Defects in the Rabbit's Knee Joint by Implantation of Allogeneic Mesenchymal Stem Cells in Fibrin Clots

Published on: May 21, 2013

17.6K

Related Concept Videos

Chronic Obstructive Pulmonary Disease-III: Symptoms and Complications.01:25

Chronic Obstructive Pulmonary Disease-III: Symptoms and Complications.

Understanding the variety of primary symptoms and systemic complications that characterize chronic obstructive pulmonary disease (COPD) is crucial for healthcare professionals.
Symptoms of COPD can be classified as primary or systemic. Primary symptoms relate to reduced airflow, while systemic or extrapulmonary symptoms relate to COPD's broader impact on the body.
Primary Symptoms of COPD:
3.0K
Peripheral Artery Disease III: Interprofessional Care01:27

Peripheral Artery Disease III: Interprofessional Care

Peripheral Artery Disease (PAD) is characterized by narrowed arteries that diminish blood flow to the extremities. Effective management of PAD requires an interprofessional approach involving various healthcare professionals. The critical aspects of interprofessional care for PAD patients focus on risk factor modification, drug therapy, exercise therapy, nutrition therapy, critical limb ischemia care, and interventional radiology and surgical procedures.The primary treatment goal for PAD...
45
Asthma-III: Symptoms and Complications01:24

Asthma-III: Symptoms and Complications

Asthma, a common chronic respiratory condition, is classified considering the frequency and severity of symptoms alongside lung function impairment. Understanding this classification is essential for appropriate treatment and management. Here's a detailed look at the classification of asthma and its clinical features and complications:
Classification of Asthma
2.7K
Rheumatic Heart Disease III: Medical Management01:21

Rheumatic Heart Disease III: Medical Management

Rheumatic heart disease (RHD) management can be divided into two main strategies: prevention and long-term management.Primary PreventionPrimary prevention focuses on timely diagnosis and management of group A streptococcal pharyngitis to prevent acute rheumatic fever. The most widely used antibiotic for treating this condition is intramuscular benzathine penicillin G.Acute Rheumatic Fever TreatmentThe primary treatment goal for a patient diagnosed with acute rheumatic fever is to suppress the...
48
Cardiomyopathy III: Hypertrophic Cardiomyopathy01:29

Cardiomyopathy III: Hypertrophic Cardiomyopathy

Hypertrophic cardiomyopathy, or HCM, is an autosomal dominant genetic disorder characterized by asymmetric left ventricular hypertrophy without ventricular dilation. It is more common in men and is typically diagnosed in young, athletic adults.EtiologyHCM is primarily genetic and is caused by mutations in genes encoding sarcomeric proteins. Researchers have identified over 1400 mutations across at least 11 different genes. Among these, the most frequently occurring mutations are found in the...
84
Chronic Obstructive Pulmonary Disease-V: Management01:29

Chronic Obstructive Pulmonary Disease-V: Management

Managing Chronic Obstructive Pulmonary Disease (COPD) involves a multifaceted approach to reduce symptoms, prevent exacerbations, improve overall health status, and slow disease progression. Key strategies include lifestyle modifications, pharmacotherapy, supportive therapies, and, in some cases, surgery. Here is an overview of the primary COPD management strategies:
Smoking Cessation
2.7K