Achondroplasia: Symptoms, Treatment, Causes & Diagnosis - Cleveland Clinic
WEBDec 10, 2021 · Achondroplasia is the most common form of skeletal dysplasia, which is the umbrella term used to identify hundreds of conditions that affect the growth of bones and cartilage. Achondroplasia specifically targets bone growth in your arms and legs.
Achondroplasia - Wikipedia
WEBAchondroplasia is a genetic disorder with an autosomal dominant pattern of inheritance whose primary feature is dwarfism. [3] It is the most common cause of dwarfism [4] and affects about 1 in 27,500 people. [3] In those with the condition, the arms and legs are short, while the torso is typically of normal length. [3]
Achondroplasia - Johns Hopkins Medicine
WEBAchondroplasia is the most common form of skeletal displasia and slows down the growth of bone in the cartilage in growth plates. This causes shorter and abnormally-shaped bones, in the limbs, spine and skull.
Achondroplasia - UpToDate
WEBDec 8, 2023 · Patients with achondroplasia may have delayed motor development early on, but cognition is normal. There are a number of medical comorbidities associated with this disorder. The clinical findings, diagnosis, treatment options, and anticipatory guidance are discussed in this topic review.
Achondroplasia - StatPearls - NCBI Bookshelf
WEBAug 23, 2023 · The term “achondroplasia” was first used in 1878 to distinguish it from rickets, one of many other abnormal conditions of bone growth. Achondroplasia means “without cartilage formation,” and it is categorized as a physeal (growth plate) dysplasia. [2]
Achondroplasia: MedlinePlus Genetics
WEBAchondroplasia is a form of short-limbed dwarfism. Explore symptoms, inheritance, genetics of this condition.
Achondroplasia: Causes, Symptoms, and Diagnosis - Healthline
WEBApr 27, 2017 · Achondroplasia is a bone growth disorder that causes disproportionate dwarfism. Dwarfism is defined as a condition of short stature as an adult. People with achondroplasia are short in stature...
Achondroplasia - GeneReviews® - NCBI Bookshelf
WEBOct 12, 1998 · Achondroplasia is inherited in an autosomal dominant manner. Around 80% of individuals with achondroplasia have parents with average stature and have achondroplasia as the result of a de novo pathogenic variant. Such parents have a very low risk of having another child with achondroplasia.
Achondroplasia - Children's Hospital of Philadelphia
WEBAchondroplasia is a group of rare genetic (inherited) bone disorders. Achondroplasia is the most common type of what was once called dwarfism, in which the child's arms and legs are short in proportion to body length.
Orphanet: Achondroplasia
WEBIf one parent has achondroplasia there is a 50% risk at each pregnancy of passing it on to offspring. If both parents have achondroplasia, there is another 25% risk that the offspring will have homozygous achondroplasia which is incompatible with life.
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