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KEY FACTS
Terminology
Imaging
Pathology
Clinical Issues
TERMINOLOGY
Definitions
- Mutations of fibroblast growth factor receptor-3 gene (FGFR3) at chromosome location 4p16.3 underlie achondroplasia & related dysplasias (FGFR3 group)
- Achondroplasia (ACH)
- Most common nonlethal skeletal dysplasia
- Large cranium; small face & chest; short limbs
- Hypochondroplasia
- Milder skeletal dysplasia affecting similar sites
- Usually not recognized until child is > 2 years old
- Severe forms overlap with achondroplasia
- Milder changes of hands & spine
- Fibular overgrowth
- Milder skeletal dysplasia affecting similar sites
- Thanatophoric dysplasia
- Most common lethal bone dysplasia
- Lungs cannot fully develop/ventilate due to short ribs; micromelia
- Achondroplasia (ACH)
- Mutations of fibroblast growth factor receptor-3 gene (FGFR3) at chromosome location 4p16.3 underlie achondroplasia & related dysplasias (FGFR3 group)
IMAGING
Radiographic Findings
Ultrasonographic Findings
Other Modality Findings
DIFFERENTIAL DIAGNOSIS
PATHOLOGY
General Features
Microscopic Features
CLINICAL ISSUES
Presentation
Demographics
Natural History & Prognosis
Treatment
Selected References
- Khalid K et al: Pictorial review: imaging of the spinal manifestations of achondroplasia. Br J Radiol. 94(1123):20210223, 2021
- Sarioglu FC et al: Neuroimaging and calvarial findings in achondroplasia. Pediatr Radiol. 50(12):1669-79, 2020
- Pauli RM: Achondroplasia: a comprehensive clinical review. Orphanet J Rare Dis. 14(1):1, 2019
- Manikkam SA et al: Temporal lobe malformations in achondroplasia: expanding the brain imaging phenotype associated with FGFR3-related skeletal dysplasias. AJNR Am J Neuroradiol. 39(2):380-4, 2018
- Daugherty A: Achondroplasia: etiology, clinical presentation, and management. Neonatal Netw. 36(6):337-42, 2017
- Ornitz DM et al: Achondroplasia: development, pathogenesis, and therapy. Dev Dyn. 246(4):291-309, 2017
- Sargar KM et al: Imaging of skeletal disorders caused by fibroblast growth factor receptor gene mutations. Radiographics. 37(6):1813-30, 2017
- Gajarajulu V et al: The radiograph of the pelvis as a window to skeletal dysplasias. Indian J Pediatr. 83(6):543-52, 2016
- Bouali H et al: Achondroplasia: current options and future perspective. Pediatr Endocrinol Rev. 12(4):388-95, 2015
- Donaldson J et al: Achondroplasia and limb lengthening: Results in a UK cohort and review of the literature. J Orthop. 12(1):31-4, 2015
- Everett TR et al: Cell-free fetal DNA: the new tool in fetal medicine. Ultrasound Obstet Gynecol. 45(5):499-507, 2015
- Panda A et al: Skeletal dysplasias: A radiographic approach and review of common non-lethal skeletal dysplasias. World J Radiol. 6(10):808-25, 2014
- Boulet S et al: Prenatal diagnosis of achondroplasia: new specific signs. Prenat Diagn. 29(7):697-702, 2009
- Ednick M et al: Sleep-related respiratory abnormalities and arousal pattern in achondroplasia during early infancy. J Pediatr. 155(4):510-5, 2009
- King JA et al: Neurosurgical implications of achondroplasia. J Neurosurg Pediatr. 4(4):297-306, 2009
- Shirley ED et al: Achondroplasia: manifestations and treatment. J Am Acad Orthop Surg. 17(4):231-41, 2009
- Richette P et al: Achondroplasia: from genotype to phenotype. Joint Bone Spine. 75(2):125-30, 2008
- Horton WA et al: Achondroplasia. Lancet. 370(9582):162-72, 2007
- Haga N: Management of disabilities associated with achondroplasia. J Orthop Sci. 9(1):103-7, 2004
- Stanley G et al: Observations on the cause of bowlegs in achondroplasia. J Pediatr Orthop. 22(1):112-6, 2002
- Tasker RC et al: Distinct patterns of respiratory difficulty in young children with achondroplasia: a clinical, sleep, and lung function study. Arch Dis Child. 79(2):99-108, 1998
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Tables
KEY FACTS
Terminology
Imaging
Pathology
Clinical Issues
TERMINOLOGY
Definitions
- Mutations of fibroblast growth factor receptor-3 gene (FGFR3) at chromosome location 4p16.3 underlie achondroplasia & related dysplasias (FGFR3 group)
- Achondroplasia (ACH)
- Most common nonlethal skeletal dysplasia
- Large cranium; small face & chest; short limbs
- Hypochondroplasia
- Milder skeletal dysplasia affecting similar sites
- Usually not recognized until child is > 2 years old
- Severe forms overlap with achondroplasia
- Milder changes of hands & spine
- Fibular overgrowth
- Milder skeletal dysplasia affecting similar sites
- Thanatophoric dysplasia
- Most common lethal bone dysplasia
- Lungs cannot fully develop/ventilate due to short ribs; micromelia
- Achondroplasia (ACH)
- Mutations of fibroblast growth factor receptor-3 gene (FGFR3) at chromosome location 4p16.3 underlie achondroplasia & related dysplasias (FGFR3 group)
IMAGING
Radiographic Findings
Ultrasonographic Findings
Other Modality Findings
DIFFERENTIAL DIAGNOSIS
PATHOLOGY
General Features
Microscopic Features
CLINICAL ISSUES
Presentation
Demographics
Natural History & Prognosis
Treatment
Selected References
- Khalid K et al: Pictorial review: imaging of the spinal manifestations of achondroplasia. Br J Radiol. 94(1123):20210223, 2021
- Sarioglu FC et al: Neuroimaging and calvarial findings in achondroplasia. Pediatr Radiol. 50(12):1669-79, 2020
- Pauli RM: Achondroplasia: a comprehensive clinical review. Orphanet J Rare Dis. 14(1):1, 2019
- Manikkam SA et al: Temporal lobe malformations in achondroplasia: expanding the brain imaging phenotype associated with FGFR3-related skeletal dysplasias. AJNR Am J Neuroradiol. 39(2):380-4, 2018
- Daugherty A: Achondroplasia: etiology, clinical presentation, and management. Neonatal Netw. 36(6):337-42, 2017
- Ornitz DM et al: Achondroplasia: development, pathogenesis, and therapy. Dev Dyn. 246(4):291-309, 2017
- Sargar KM et al: Imaging of skeletal disorders caused by fibroblast growth factor receptor gene mutations. Radiographics. 37(6):1813-30, 2017
- Gajarajulu V et al: The radiograph of the pelvis as a window to skeletal dysplasias. Indian J Pediatr. 83(6):543-52, 2016
- Bouali H et al: Achondroplasia: current options and future perspective. Pediatr Endocrinol Rev. 12(4):388-95, 2015
- Donaldson J et al: Achondroplasia and limb lengthening: Results in a UK cohort and review of the literature. J Orthop. 12(1):31-4, 2015
- Everett TR et al: Cell-free fetal DNA: the new tool in fetal medicine. Ultrasound Obstet Gynecol. 45(5):499-507, 2015
- Panda A et al: Skeletal dysplasias: A radiographic approach and review of common non-lethal skeletal dysplasias. World J Radiol. 6(10):808-25, 2014
- Boulet S et al: Prenatal diagnosis of achondroplasia: new specific signs. Prenat Diagn. 29(7):697-702, 2009
- Ednick M et al: Sleep-related respiratory abnormalities and arousal pattern in achondroplasia during early infancy. J Pediatr. 155(4):510-5, 2009
- King JA et al: Neurosurgical implications of achondroplasia. J Neurosurg Pediatr. 4(4):297-306, 2009
- Shirley ED et al: Achondroplasia: manifestations and treatment. J Am Acad Orthop Surg. 17(4):231-41, 2009
- Richette P et al: Achondroplasia: from genotype to phenotype. Joint Bone Spine. 75(2):125-30, 2008
- Horton WA et al: Achondroplasia. Lancet. 370(9582):162-72, 2007
- Haga N: Management of disabilities associated with achondroplasia. J Orthop Sci. 9(1):103-7, 2004
- Stanley G et al: Observations on the cause of bowlegs in achondroplasia. J Pediatr Orthop. 22(1):112-6, 2002
- Tasker RC et al: Distinct patterns of respiratory difficulty in young children with achondroplasia: a clinical, sleep, and lung function study. Arch Dis Child. 79(2):99-108, 1998
