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Warning-sign checks

Aarskog syndrome: when to get help

Go through these in order and stop at the first one that applies. If you are reading this for someone else, answer for them.

  1. 1

    Is any of this happening now?

    Call 911
    Other emergency signs, for anyone
    • Someone who is struggling to breathe, gasping, choking, or cannot get words out
    • Someone who has chest pain, tightness or pressure lasting more than a few minutes
    • Someone who has sudden weakness or drooping on one side of the face or body, slurred speech, or sudden confusion
    • Someone who is unconscious, or cannot be woken
    • Someone who is bleeding heavily and it will not stop with firm pressure
    • Someone who has had a seizure that will not stop, or does not wake up afterwards
    • Someone who has lips or skin that look pale, blue, grey or blotchy
    • Someone who you believe has taken an overdose or swallowed something poisonous
  2. 2

    Does any of this apply?

    Book an appointment

    Follow-up should be individualized.

    Children may benefit from coordinated care involving primary care, clinical genetics, dentistry, eye care, and developmental or educational professionals.

    Endocrinology, urology, orthopedics, or other specialties may be added when a specific concern is present.

    Routine visits may review growth, development, school progress, vision, hearing, dental health, puberty, and emotional well-being.

    Clinicians may also recheck for hernias, spinal curvature, or joint problems as the child grows.

The article also says

Genetic counseling can help families understand test results and inheritance.

It may also be useful when relatives are considering testing or when an affected person is planning a family.

As adolescents move into adult care, they should gradually receive information about their diagnosis, previous procedures, genetic test results, and any continuing health needs.

Copies of genetic reports and specialist records can make this transition easier.

Every sign above is quoted from the sofidex article on Aarskog syndrome. If you are not sure, err upward — it is always reasonable to be checked.