source: Clinical Genetics
Aldeeri AA, Alazami AM, Hijazi H, Alzahrani F, Alkuraya FS
Several umbilical abnormalities have been linked to and utilized to aid in the clinical diagnosis of certain syndromes. For instance, umbilical skin redundancy has long been recognized as a core feature of Rieger syndrome although its association with other disorders is unknown. In this article, we report for the first time the occurrence of this distinct clinical sign in association with two other syndromes: Morquio syndrome and FKBP14-related Ehlers-Danlos syndrome (EDS). Our observation is clinically significant because patients with Morquio syndrome are often diagnosed only after they develop typical skeletal manifestations, which reduces the efficacy of available enzyme replacement therapy, so the umbilical sign we report here can facilitate a much earlier diagnosis. In addition, the extreme rarity of FKBP14-related Ehlers-Danlos syndrome (EDS) can greatly delay the diagnosis of this condition unless it is recognized in the differential diagnosis of redundant umbilical skin as we argue in this report.
King Faisal Specialist Hospital and Research Center
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