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Examines in Physical Medicine & Rehabilitation

Rare Case Primary Report: Xia Gibb’s Syndrome

Submission: July 12, 2021; Published: July 29, 2021

DOI: 10.31031/EPMR.2020.03.000562

ISSN: 2637-7934
Volume 3 Issue 3


Xia-Gibbs syndrome (Mental retardation, autosomal dominant 25; MRD25) (MIM 615829), first described in 2014, is a rare autosomal dominant disease characterized by mental retardation, developmental delay, speech delay, structural brain anomalies, hypotonicity, protuberant eyes, visual problems, laryngomalacia and low sleep quality. It occurs due to heterozygous mutations in the AT-hook DNA binding motif containing 1 (AHDC1) gene on chromosome 1p36. Research reports published in 2020 by Ping et al. [1], states that about 100 patients worldwide have been identified, all of them in the pediatric age or adulthood. To date, no fetal XGS has been reported [1-4]. Xia-Gibbs syndrome (XGS) is a recently described neurodevelopmental disorder due to heterozygous loss-of-function AHDC1 mutations. XGS is characterized by global developmental delay, intellectual disability, hypotonia, and sleep abnormalities. We are here to report our primary observations and findings of a diagnosed case of Xia Gibb’s Syndrome referred for Physiotherapy with signs of development delay, atonia, joint laxity and related features.

Keywords: Xia-Gibbs syndrome; XGS; Physiotherapy

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