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Warning-sign checks

Classic type pfeiffer 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

    Seek emergency care for severe difficulty breathing, blue or gray coloring, a seizure, sudden loss of vision, a serious eye injury, inability to close the eyelids over the eye, or a severe headache with repeated vomiting, confusion, or unusual difficulty waking.

    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

    Is any of this happening?

    Be seen today

    Contact the care team promptly for new or worsening headaches, repeated morning vomiting, changes in balance, declining school performance, developmental regression, increased snoring, breathing pauses during sleep, new eye pain, or changes in vision.

    These concerns are not always caused by Pfeiffer syndrome, but they deserve assessment.

  3. 3

    Does any of this apply?

    Book an appointment

    Long-term follow-up is usually provided by a craniofacial team.

    Visits may monitor head growth, skull shape, vision, hearing, sleep, breathing, dental development, speech, learning, and emotional health.

    The schedule changes with age and with the child's medical needs.

    Routine follow-up is important even when a child seems well.

    Raised skull pressure, hearing loss, and sleep apnea may develop gradually and may not cause obvious early symptoms.

    As adolescents move toward adult care, follow-up may shift to adult craniofacial, dental, eye, hearing, sleep, and genetics services.

    Genetic counseling can help affected adults understand inheritance and reproductive options without directing personal decisions.

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