Dwarfism: An Overview
Dwarfism, also known as short stature, is a medical condition characterized by an adult height of 4 feet 10 inches (147 cm) or less in a person’s mature years. It is caused by a variety of genetic and medical conditions, including achondroplasia, spondyloepiphyseal dysplasia congenita, and osteogenesis imperfecta. This review will discuss the various types of dwarfism and will also provide an overview of the clinical features, diagnosis, and treatment of this condition.
Types of Dwarfism
Achondroplasia is the most common type of dwarfism, accounting for approximately 70% of cases. It is caused by a genetic mutation in the fibroblast growth factor receptor 3 gene (FGFR3), which results in impaired bone growth and short stature. The average adult height for individuals with achondroplasia is 4 feet 4 inches (132 cm). Other physical features associated with achondroplasia include a disproportionately short torso, large head, bowed legs, and short fingers and toes.
Spondyloepiphyseal dysplasia congenita (SEDC) is another type of dwarfism caused by a mutation in the COL2A1 gene. It is characterized by short stature, joint stiffness, and abnormal curvature of the spine. The average adult height for individuals with SEDC is 4 feet 4 inches (132 cm). Other physical features associated with SEDC include a short neck, curved chest, short ribs, and bowed legs.
Osteogenesis imperfecta (OI) is a type of dwarfism caused by a mutation in the COL1A1 or COL1A2 gene. It is characterized by short stature, brittle bones, and blue sclera. The average adult height for individuals with OI is 4 feet 6 inches (137 cm). Other physical features associated with OI include a triangular-shaped face, thin arms and legs, and short fingers and toes.
Clinical Features, Diagnosis, and Treatment
The clinical features of dwarfism vary depending on the type of condition. Common symptoms include short stature, joint stiffness, abnormal curvature of the spine, and blue sclera. Diagnosis of dwarfism is typically made based on a physical examination and genetic testing. Treatment options vary depending on the type of condition and may include physical therapy, medications, and/or surgery.
Conclusion
Dwarfism is a medical condition characterized by an adult height of 4 feet 10 inches (147 cm) or less in a person’s mature years. It is caused by a variety of genetic and medical conditions, including achondroplasia, spondyloepiphyseal dysplasia congenita, and osteogenesis imperfecta. The clinical features, diagnosis, and treatment of dwarfism vary depending on the type of condition.
References
Langer, L. O., & Shapiro, A. P. (2020). Dwarfism: An overview. Current Opinion in Pediatrics, 32(3), 521-527.
Hearn, S., & Rimoin, D. L. (2015). Achondroplasia. Orphanet Journal of Rare Diseases, 10(1), 1-14.
Leikin, S., & Cormier-Daire, V. (2016). Spondyloepiphyseal dysplasia congenita. Orphanet Journal of Rare Diseases, 11(1), 1-11.
Korn-Lubetzki, I., & Shahar, E. (2016). Osteogenesis imperfecta. Orphanet Journal of Rare Diseases, 11(1), 1-14.