Summary of Diagnosing Hunter syndrome - ENT doctors may be among the first to spot MPS II
Pediatric neurologists are often the first to spot syndromes in patients due to their detailed examination of the head and neck.
facial features play a key role in diagnosing syndromes such as Hunter syndrome, including coarse facial features, frontal bossing, wide-set eyes, flattened nasal bridge, and low-set ears.
Patients with Hunter syndrome may present with upper airway issues, adenoid hypertrophy, tonsil problems, and obstructive sleep apnea symptoms.
Diagnosis of syndromes may not be immediate, but becomes more apparent as the child grows and facial features become more pronounced.
It is important for healthcare professionals to have a clinical suspicion of a syndrome and refer the patient to a geneticist for evaluation.
Communication with patients and families about potential syndromes can be challenging, but it is crucial to address the issue and seek appropriate care.
Collaborating with other professionals who have experience in treating syndromic children can provide valuable knowledge and support.
Education and awareness are key in identifying and diagnosing syndromic children, as they may be more common than realized.
Notable Quotes
— 05:10 — « education you know I mean people need to be educated that they are probably encountering syndromic children all the time. »
— 05:40 — « It is important to be on the lookout for these patients because they walk in our office every day. »
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Science and Nature