Pfeiffer syndrome is a rare genetic disorder characterized by craniosynostosis—premature fusion of the skull bones—present during pregnancy. This condition causes deformities of the head and face, prominent eyes, and short, wide thumbs and toes. This disorder often involves mutations in the FGFR1 or FGFR2 genes. #geneticdisorders #babylove #babycare #nicucare #newbornbaby #babyworld | Yuli Ismalia
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Pfeiffer syndrome is a rare genetic disorder characterized by cranios…
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Uni Medical care on Instagram: "Crouzon syndrome is a rare genetic disorder caused mainly by FGFR2 mutations, leading to premature cranial suture fusion (craniosynostosis) and impaired craniofacial bone development. 🟥 Key clinical features include midface hypoplasia, proptosis, and maxillary growth deficiency, which create both aesthetic and functional problems. 🟥 Airway obstruction is common due to retrusion of the midface, often resulting in breathing difficulties and sleep-disordered respir
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