Achondroplasia (ACH) is a common inherited skeletal dysplasia (inherited dwarfism) that compromises quality of life across the lifespan. In 2021, vosoritide became the first approved precision therapy for ACH and is now available in more than 40 countries. Compared with prior symptomatic measures, vosoritide has demonstrated favorable efficacy and a reassuring safety profile. Nevertheless, existing international ACH guidelines largely emphasize complication management and symptomatic care, and there is no unified consensus on pharmacologic therapy. To address this gap, an international expert group developed the International Consensus Guidelines for the Implementation and Monitoring of Vosoritide Therapy in Patients with Achondroplasia providing systematic recommendations that span the continuum of care - from initial patient contact and pre-treatment assessment to medication counseling, injection training, and long-term outcome monitoring. These recommendations complement and refine current management and nursing protocols for individuals with ACH and offer practical guidance for clinicians across diverse regions. This article highlights key elements of the guideline to provide evidence-based support and clinical direction for healthcare professionals in China treating children with ACH using vosoritide.
Humans ; Achondroplasia/drug therapy* ; Consensus ; Practice Guidelines as Topic ; Child

Achondroplasia (ACH) is a common skeletal dysplasia in children, primarily caused by mutations in the fibroblast growth factor receptor 3 (FGFR3) gene. These mutations disrupt the process of endochondral ossification in different types of bones, including long bones of the limbs and vertebrae. Children with ACH typically present with short stature and may experience severe multi-system complications. The diagnosis of ACH is based on typical clinical manifestations, imaging features, and genetic testing results. Treatment options mainly include pharmacological interventions and surgical procedures aimed at improving height, as well as symptomatic management for associated complications. This article discusses both prenatal and clinical diagnostic approaches for ACH, as well as treatment strategies focused on enhancing height, aiming to deepen the understanding of this condition.
Humans ; Achondroplasia/therapy* ; Child ; Body Height ; Early Diagnosis ; Receptor, Fibroblast Growth Factor, Type 3/genetics*

OBJECTIVES: To study genotype-phenotype correlations in children with FGFR3 variants and to improve clinical recognition of related disorders. METHODS: Clinical data of 95 patients aged 0-18 years harboring FGFR3 variants, confirmed by whole‑exome sequencing at Shanghai Children's Medical Center from January 2012 to December 2023, were retrospectively reviewed. Detailed phenotypic characterization was performed for 22 patients with achondroplasia (ACH) and 10 with hypochondroplasia (HCH). RESULTS: Among the 95 patients, 52 (55%) had ACH, 24 (25%) had HCH, 9 (9%) had thanatophoric dysplasia, 3 (3%) had syndromic skeletal dysplasia, 2 (2%) had severe achondroplasia with developmental delay and acanthosis nigricans, and 5 (5%) remained unclassified. A previously unreported FGFR3 variant, c.1663G>T, was identified. All 22 ACH patients presented with disproportionate short stature accompanied by limb dysplasia, commonly with macrocephaly, a depressed nasal bridge, bowed legs, and frontal bossing; complications were present in 17 (77%). The 10 HCH patients predominantly exhibited disproportionate short stature with limb dysplasia and depressed nasal bridge. CONCLUSIONS ACH is the most frequent phenotype associated with FGFR3 variants, and missense variants constitute the predominant variant type. The degree of FGFR3 activation appears to correlate with the clinical severity of skeletal dysplasia.
Humans ; Receptor, Fibroblast Growth Factor, Type 3/genetics* ; Child ; Male ; Child, Preschool ; Female ; Infant ; Adolescent ; Dwarfism/genetics* ; Achondroplasia/genetics* ; Lordosis/genetics* ; Infant, Newborn ; Retrospective Studies ; Genetic Association Studies ; Bone and Bones/abnormalities* ; Phenotype ; Limb Deformities, Congenital

OBJECTIVE: To describe the characteristics of short arm deformity in patients with achondroplasia, and summarize the progress of its lenthening and reconstruction, so as to provide reference for clinical diagnosis and treatment. METHODS: The literature on the lenthening of upper limb with achondroplastic short arm deformity at home and abroad in recent years was reviewed, and the characteristics, extension methods, postoperative management, effectiveness evaluation, and related complications of short arm deformity were summarized. RESULTS: Achondroplastic short arm deformity affect the patient's daily perineal hygiene activities. Although the upper limb is proportionately shortened, the humerus is mainly short limb deformity. Bilateral humeral lengthening is a common treatment method, and the traditional lengthening tools are mainly external fixation, guided by Ilizarov distraction osteogenesis concept; intramedullary lengthening is the latest treatment method. Lengthening percentage and healing index are commonly used for clinical evaluation indexes, and complications such as nerve injury may occur during upper limb lengthening. CONCLUSION In addition to appearance improvement, achondroplastic short arm lengthening is of great significance in achieving self-management of individual perineal hygiene. Lenthening and reconstruction methods are constantly being innovated and improved.
Humans ; Achondroplasia/surgery* ; Osteogenesis, Distraction/methods* ; Bone Lengthening/methods* ; Plastic Surgery Procedures/methods* ; Humerus/abnormalities* ; Treatment Outcome ; Ilizarov Technique ; Arm/abnormalities*

Achondroplasia is a rare genetic disorder that affects endochondral ossification resulting in decreased linear bone growth. It is a form of primary skeletal dysplasia that accounts for more than 90% of disproportionate short stature in humans with an incidence of approximately 1 in 15,000–1 in 40,000 live births. These patients present with a characteristic craniofacial appearance along with musculoskeletal, respiratory, and cardiac abnormalities that, when superimposed with the physiological changes of pregnancy, may complicate anesthetic management. The paucity of evidence-based recommendations and protocols for the anesthetic management of parturients with achondroplasia for cesarean delivery poses a challenge in the choice of anesthesia and warrant special anesthetic considerations. Knowing the intricate relationship between the existing anatomical and physiological changes in achondroplasia and pregnancy is crucial for favorable patient outcomes. This is a case report of a 26-year-old primipara with achondroplasia who had a cesarean delivery for malpresentation under spinal anesthesia.

Achondroplasia is a rare genetic disorder that affects endochondral ossification resulting in decreased linear bone growth. It is a form of primary skeletal dysplasia that accounts for more than 90% of disproportionate short stature in humans with an incidence of approximately 1 in 15,000–1 in 40,000 live births. These patients present with a characteristic craniofacial appearance along with musculoskeletal, respiratory, and cardiac abnormalities that, when superimposed with the physiological changes of pregnancy, may complicate anesthetic management. The paucity of evidence-based recommendations and protocols for the anesthetic management of parturients with achondroplasia for cesarean delivery poses a challenge in the choice of anesthesia and warrant special anesthetic considerations. Knowing the intricate relationship between the existing anatomical and physiological changes in achondroplasia and pregnancy is crucial for favorable patient outcomes. This is a case report of a 26-year-old primipara with achondroplasia who had a cesarean delivery for malpresentation under spinal anesthesia.

Achondroplasia is a rare genetic disorder that affects endochondral ossification resulting in decreased linear bone growth. It is a form of primary skeletal dysplasia that accounts for more than 90% of disproportionate short stature in humans with an incidence of approximately 1 in 15,000–1 in 40,000 live births. These patients present with a characteristic craniofacial appearance along with musculoskeletal, respiratory, and cardiac abnormalities that, when superimposed with the physiological changes of pregnancy, may complicate anesthetic management. The paucity of evidence-based recommendations and protocols for the anesthetic management of parturients with achondroplasia for cesarean delivery poses a challenge in the choice of anesthesia and warrant special anesthetic considerations. Knowing the intricate relationship between the existing anatomical and physiological changes in achondroplasia and pregnancy is crucial for favorable patient outcomes. This is a case report of a 26-year-old primipara with achondroplasia who had a cesarean delivery for malpresentation under spinal anesthesia.

A 22-month-old male diagnosed with achondroplasia was referred for difficulty in sleeping and was diagnosed to have severe obstructive sleep apnea (OSA) on polysomnography (PSG) (AHI 50.1). This patient had macrocephaly, midface hypoplasia, flat nasal bridge, relative macroglossia and enlarged palatine and adenoid tonsils. The patient underwent bilateral tonsillectomy with adenoidectomy without complication. Six months post-op, repeat polysomnography revealed a still severe (AHI 15.7) OSA with preferential recovery of REM and N3 sleep. Further outpatient follow-up and management is warranted. OSA despite being common in this subset of patients remains overlooked and not prioritized because of the multitude of coexisting concerns. Management of OSA in children with achondroplasia shows improved sleep structure and is helpful for further growth and development.
achondroplasia ; OSA ; tonsillectomy

Humans ; Achondroplasia/therapy*

OBJECTIVES: To study the clinical features and fibroblast growth factor receptor 3 (FGFR3) gene mutations of children with achondroplasia (ACH) through an analysis of 17 cases. METHODS: A retrospective analysis was performed on the clinical data and FGFR3 gene detection results of 17 children with ACH who were diagnosed from January 2009 to October 2021. RESULTS: Of the 17 children with ACH, common clinical manifestations included disproportionate short stature (100%, 17/17), macrocephaly (100%, 17/17), trident hand (82%, 14/17), and genu varum (88%, 15/17). The common imaging findings were rhizomelic shortening of the long bones (100%, 17/17) and narrowing of the lumbar intervertebral space (88%, 15/17). Major complications included skeletal dysplasia (100%, 17/17), middle ear dysfunction (82%, 14/17), motor/language developmental delay (88%, 15/17), chronic pain (59%, 10/17), sleep apnea (53%, 9/17), obesity (41%, 7/17), foramen magnum stenosis (35%, 6/17), and hydrocephalus (24%, 4/17). All 17 children (100%) had FGFR3 mutations, among whom 13 had c.1138G>A hotspot mutations of the FGFR3 gene, 2 had c.1138G>C mutations of the FGFR3 gene, and 2 had unreported mutations, with c.1252C>T mutations of the FGFR3 gene in one child and c.445+2_445+5delTAGG mutations of the FGFR3 gene in the other child. CONCLUSIONS This study identifies the unreported mutation sites of the FGFR3 gene, which extends the gene mutation spectrum of ACH. ACH is a progressive disease requiring lifelong management through multidisciplinary collaboration.
Achondroplasia/genetics* ; Child ; Humans ; Mutation ; Osteochondrodysplasias/genetics* ; Receptor, Fibroblast Growth Factor, Type 3/genetics* ; Retrospective Studies