Purpose Of Review: The goal of this review is to evaluate the management options for achondroplasia, the most common non-lethal skeletal dysplasia. This disease is characterized by short stature and a variety of complications, some of which can be quite severe.
Recent Findings: Despite several attempts to standardize care, there is still no widely accepted consensus. This is in part due to absence of concrete data on the incidence of sudden unexplained death in infants with achondroplasia and the best investigation for ascertaining which individuals could benefit from foramen magnum decompression surgery. In this review, we identify the different options of care and management for the various orthopedic, neurologic, and respiratory complications. In parallel, several innovative or drug repositioning therapies are being investigated that would restore bone growth but may also prevent complications. Achondroplasia is the most common non-lethal skeletal dysplasia. It is characterized by short stature and a variety of complications, some of which can be quite severe. Despite several attempts to standardize care, there is still no widely accepted consensus. This is in part due to absence of concrete data on the incidence of sudden unexplained death in infants with achondroplasia and the best investigation for ascertaining which individuals could benefit from foramen magnum decompression surgery. In this review, we identify the different options of care and management for the various orthopedic, neurologic, and respiratory complications. In parallel, several innovative or drug repositioning therapies are being investigated that would restore bone growth but may also prevent complications.
Download full-text PDF |
Source |
|---|---|
| http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5435778 | PMC |
| http://dx.doi.org/10.1007/s11914-017-0347-2 | DOI Listing |
Publication Analysis
Top Keywords
Similar Publications
Management of Methicillin-Resistant Staphylococcus aureus-infected femoral nonunion during lengthening in achondroplasia using circular external fixator: a case report.
BMC Musculoskelet Disord
December 2024
Department of Orthopedic Surgery, Akita University Graduate School of Medicine, 1-1-1 Hondo, Akita, 010-8543, Japan.
Background: Achondroplasia, the most common form of rhizomelic dwarfism, occurs in approximately 1 in 25,000 individuals. Clinical features include attenuated growth, rhizomelic limb shortening, and craniofacial abnormalities. Limb-lengthening surgery is widely employed to improve quality of life.
View Article and Find Full Text PDFAnesthetic management of pregnant women with skeletal dysplasia and short stature: a case report.
Rev Esp Anestesiol Reanim (Engl Ed)
December 2024
Servicio de Anestesiología, Reanimación y Terapéutica del Dolor Hospital Clínic de Barcelona, Universidad de Barcelona (UB), Barcelona, Spain. Electronic address:
Skeletal dysplasias and short stature are a heterogeneous group of pathologies in which achondroplasia is the most common presentation. The presence of bone deformities leads to thoracic and airway changes that can complicate ventilation and airway management. Most individuals with skeletal dysplasia present spinal abnormalities that increase the difficulty of administering neuraxial anaesthesia.
View Article and Find Full Text PDFCDK8 inhibitor KY-065 rescues skeletal abnormalities in achondroplasia model mice.
Biochim Biophys Acta Mol Basis Dis
December 2024
Department of Bioactive Molecules, Pharmacology, Gifu Pharmaceutical University, Gifu 501-1196, Japan; United Graduate School of Drug Discovery and Medical Information Sciences, Gifu University, Gifu 501-1196, Japan; Center for One Medicine Innovative Translational Research (COMIT), Division of Innovative Modality Development, Gifu University, Gifu 501-1196, Japan. Electronic address:
Cyclin-dependent kinase 8 (CDK8) is a transcription-related CDK family member implicated in the regulation of bone homeostasis, and we recently demonstrated that our internally developed CDK8 inhibitor KY-065 can prevent postmenopausal osteoporosis in a mouse model. Achondroplasia (ACH), the most common form of genetic dwarfism in humans, is caused by a gain-of-function mutation in fibroblast growth factor receptor 3 (FGFR3), a receptor tyrosine kinase that activates downstream mitogen-activated protein kinase (MAPK) and signal transducer and activator of transcription (STAT) signaling pathways. The first precision drug approved for the treatment of ACH in children, the C-type natriuretic peptide analog vosoritide, antagonizes the MAPK pathway, while there are currently no effective and safe medications targeting the STAT1 pathway.
View Article and Find Full Text PDFLifetime Impact Study for Achondroplasia (LISA): Findings from an observational and multinational study focused on health-related quality of life in individuals with achondroplasia in Latin America.
Genet Med Open
November 2023
Hospital de Pediatría "Prof. Dr. Juan P. Garrahan," Buenos Aires, Argentina.
Purpose: The multisystem clinical manifestations and complications of achondroplasia, the most common form of disproportionate short stature, can cause functional impairment and psychosocial burden. The Lifetime Impact Study for Achondroplasia (LISA), aimed to assess health-related quality of life and medical resource utilization among Latin America patients with achondroplasia.
Methods: Data were collected from individuals aged 3 years and above in Argentina, Brazil, and Colombia between 2018 and 2021.
Prenatal diagnosis of achondroplasia in primary care settings - Recognising the soft markers: A case report.
Malays Fam Physician
November 2024
MBBS, MMed (Radiology), Department of Radiology, Universiti Sains Malaysia, Kubang Kerian, Kelantan, Malaysia.
Achondroplasia, a genetic disorder causing limb shortening, is the most common form of disproportionate dwarfism. It can be diagnosed prenatally through sonographic findings and postnatally through clinical and radiological findings. Currently, an increasing number of affected foetuses are diagnosed antenatally since prenatal ultrasonography is routinely conducted in primary care settings.
View Article and Find Full Text PDFWant AI Summaries of new PubMed Abstracts delivered to your In-box?
Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!