down syndrome signs at birth - Search
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    Dr. Rakshith Bharadwajverified specialist
    MD, Internal Medicine
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    Symptoms & Reports
    If you are experiencing new, severe, or persistent symptoms, contact a health care provider.

    • People with Down syndrome present varied levels of intellectual and physical disabilities. The affected children and adults have some distinct facial features, but not all affected individuals will have the same set of features. Some of the common features are as follows:
    • Small skull
    • Upward slant of eyes and epicanthic folds
    • Oblique palpebral fissure
    • Nose is small with the flat nasal bridge
    • Mouth has a narrow short palate with small teeth and furrowed protruding tongue
    • Ears are small and dysplastic
    • Hands are short and stubby
    • Single crease on the hand (simian crease) at birth
    • Delayed development and behavioral problems
    • Cognitive disability


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

    Symptoms
    Severity Graph
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    Last Update : 2024-04-01.
    Seve...
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    Mild
    None
    Causes

    • The major cause is the abnormal cell division in chromosome 21
    • Extra 21st chromosome (trisomy 21)
    • Translocations between chromosome 21 and 14
    • Some cells with extra copy of chromosome 21 (Mosaic down syndrome)
    • The risk factors include:
    • Increased maternal age: women with increased age is at higher risk of giving birth to a child with Down syndrome
    • Parents who are carriers of the genetic translocation for Down syndrome
    • Parents who have one child with Down syndrome

    Prevention

    Prevention is only by prenatal diagnosis.

    Complications

    All affected children will not have complications but some may have the associated complications such as:

    • Heart defects: septal defect and hole in the heart.
    • Gut problems: constipation, diarrhea and indigestion are all more common.
    • Hearing problems: permanent, build-up of fluid in the middle ear (glue ear) is a common cause of temporary hearing problems in children with Down syndrome.
    • Vision problems
    • Thyroid problems: means that their thyroid gland is underactive.

    Source: Focus Medica . For informational purposes only. Consult a medical professional for advice. Learn more

    People also ask

    How do you know if your baby has Down syndrome?
    Physical signs of Down syndrome are usually present at birth and become more apparent as your baby grows. They can include: A flat nose bridge. Slanted eyes that point upward. A short neck. Small ears, hands and feet. Weak muscle tone at birth. Small pinky finger that points inward towards the thumb.
    my.clevelandclinic.org/health/diseases/17818-down-syndr…
    Can a doctor detect Down Syndrome on an ultrasound?
    Most cases can be diagnosed by proper prenatal screening. It can be diagnosed as early as 12 weeks during scan, where there is an increased NT value. This can be corelated with double marker test, which include beta-HCG and PAPPA.
    microsoftstart.msn.com/en-us/health/ask-professionals/i…
    How is Down syndrome diagnosed after birth?
    A diagnosis of Down syndrome after birth is often based initially on physical signs of the syndrome. But because individuals with Down syndrome may not have these symptoms, and because many of these symptoms are common in the general population, the health care provider will take a sample of the baby’s blood to confirm the diagnosis.
    www.nichd.nih.gov/health/topics/factsheets/downsyndro…
    What happens if a fetus has Down syndrome?
    Positive screening results mean the chances a fetus has Down syndrome are higher than normal, so follow-up diagnostic testing will be offered. That said, most women with screen-positive results will have normal healthy babies.
    www.verywellhealth.com/diagnosing-down-syndrome-112…
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  2. Down syndrome - Symptoms and causes - Mayo Clinic

     
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  20. Signs of Down Syndrome in Babies and Children - Parents

  21. Down syndrome - Wikipedia

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  26. Data and Statistics on Birth Defects | Birth Defects | CDC