title: Current Care and Investigational Therapies in Achondroplasia.
abstract: 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.
  
  
  
  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.
authors.affiliation: Service of Genetic Medicine, Lausanne University Hospital (CHUV), Av. Pierre-Decker 2, 1011, Lausanne, Switzerland.
authors.forename: Sheila
authors.initials: S
authors.lastname: Unger
authors.affiliation: Center for Molecular Diseases, Service of Genetic Medicine, Lausanne University Hospital (CHUV), Av. Pierre-Decker 2, 1011, Lausanne, Switzerland.
authors.forename: Luisa
authors.initials: L
authors.lastname: Bonafé
authors.affiliation: Institute de Biologie Valrose, University. Nice Sophia Antipolis, Batiment Sciences Naturelles; UFR Sciences, Parc Valrose, 28 avenue Valrose, 06108, Nice, Cedex 2, France. elvire.gouze@inserm.fr.
authors.forename: Elvire
authors.initials: E
authors.lastname: Gouze
mesh_terms: D000130:Achondroplasia / Q000150:complications / Q000628:therapy*; D001852:Bone Lengthening; D001933:Brain Stem; D019299:Decompression, Surgical; D019468:Disease Management; D005539:Foramen Magnum / Q000002:abnormalities; D006801:Humans; D006849:Hydrocephalus / Q000209:etiology / Q000628:therapy*; D007593:Joint Instability / Q000209:etiology / Q000628:therapy; D007738:Kyphosis / Q000209:etiology / Q000628:therapy*; D008141:Lordosis / Q000209:etiology / Q000628:therapy*; D008171:Lung Diseases / Q000209:etiology / Q000628:therapy*; D017410:Practice Guidelines as Topic; D020181:Sleep Apnea, Obstructive / Q000209:etiology / Q000628:therapy*; D013130:Spinal Stenosis / Q000209:etiology / Q000628:therapy; D035703:Therapies, Investigational
keywords: Achondroplasia; Biotherapies; Clinical management; FGFR3; Treatment