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  1. Including results for achondroplasia.
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  2. Achondroplasia: Symptoms, Treatment, Causes & Diagnosis

  3. Achondroplasia | Johns Hopkins Medicine

  4. Achondroplasia - Wikipedia

  5. Achondroplasia: Causes, Symptoms, and Diagnosis - Healthline

  6. Achondroplasia - Symptoms, Causes, Treatment | NORD

  7. Also known as: ACH, achondroplasia dwarfism
    Content medically reviewed by
    Dr. Shreenidhi Kulkarniverified specialist
    MS, Orthopaedics
    View full profile onLinkedIn logoLinkedIn
    Prevention

    There are no known preventive measures.

    Symptoms & Reports
    If you are experiencing new, severe, or persistent symptoms, contact a health care provider.

    Short arms and legs, an enlarged head and an average-sized torso are the most noticeable features. Here are a few signs and symptoms:

    • Physical deformity
    • Short stature
    • Bowlegs
    • Excessive inward curvature of the lower back
    • Short fingers
    • Hunched Back

    They may experience problems such as

    • Back pain
    • Frequent middle ear infection
    • Misaligned teeth
    • Snoring


    Common symptoms and their severity as reported by people on Patientslikeme.

    Symptoms
    Severity Graph
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    Last Update : 2024-02-19.
    Seve...
    Mode...
    Mild
    None
    Causes

    Mutations in the FGFR3 gene cause achondroplasia, which causes abnormal bone development during fetal development. This gene provides instructions for making a protein involved in the development and maintenance of bone and brain tissue.

    • The mutation (gene defect) usually arises spontaneously.
    • Sometimes, it is hereditary.

    Complications

    Most of the people can lead a normal life; in some cases, the complications can include:

    • Frequent ear infections-could lead to hearing loss
    • Bowing of the legs
    • Sleep apnoea/difficulty breathing during sleep
    • Hydrocephalus/excess fluid around the brain
    • Crowded teeth
    • Spinal stenosis-due to pressure on the spinal cord may lead to numbness and pain in the legs
    • Hunching of the back with back pain
    • Delay in development of motor skills such as walking and crawling
    • Pregnant women with achondroplasia may develop respiratory problems

    Source: Focus Medica . For informational purposes only. Consult a medical professional for advice. Learn more
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  8. People also ask
    Achondroplasia is a type of rare genetic bone disorder. Achondroplasia is the most common type of these disorders. It causes the strong, flexible tissue called cartilage to not be made into bone as normal. This causes a series of signs, such as short arms and legs and a large head. This condition used to be called dwarfism.
    www.stanfordchildrens.org/en/topic/default?id=achondro…
    Achondroplasia is a genetic disorder with an autosomal dominant pattern of inheritance whose primary feature is dwarfism. It is the most common cause of dwarfism and affects about 1 in 27,500 people. In those with the condition, the arms and legs are short, while the torso is typically of normal length.
    en.wikipedia.org/wiki/Achondroplasia
    No, there's no cure for achondroplasia, but almost everyone who's diagnosed is able to live a full and healthy life. How do I manage symptoms of achondroplasia?
    my.clevelandclinic.org/health/diseases/22183-achondropl…
    This leads to shorter bones, abnormally-shaped bones and shorter stature; adult height in people with achondroplasia is between 42 and 56 inches. In addition, 20 to 50 percent of children born with the condition will experience neurological impairment. The genetic defect can be passed from parent to child.
    www.hopkinsmedicine.org/health/conditions-and-disease…
  9. Genetic Mutations - Genetic and Rare Diseases Information Center

  10. Achondroplasia: MedlinePlus Genetics

    WebAchondroplasia is the most common form of short-limbed dwarfism. The word achondroplasia means "without cartilage formation." Cartilage is a tough but flexible tissue that makes up much of the skeleton during early …

  11. Achondroplasia in Children - Stanford Medicine Children's Health

  12. Achondroplasia | Boston Children's Hospital

  13. Achondroplasia - UpToDate

  14. Including results for achondroplasia.
    Do you want results only for acondropl�zico?