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Wolf-Hirschhorn Syndrome

 Wolf-Hirschhorn Syndrome

Wolf–Hirschhorn Syndrome (WHS) is a rare genetic disorder caused by a partial deletion of the short arm of chromosome 4 (4p16.3). It is characterized by distinct craniofacial features often described as a “Greek warrior helmet” appearance, along with growth retardation, intellectual disability, seizures, and developmental delay. Affected individuals may also present with hypotonia, congenital heart defects, skeletal abnormalities, and delayed speech and motor skills. The severity of symptoms varies depending on the size of the chromosomal deletion. WHS typically occurs sporadically, though it can be inherited through chromosomal rearrangements. Early diagnosis through genetic testing and multidisciplinary medical care are essential for improving quality of life and managing associated complications.

Wolf–Hirschhorn Syndrome, WHS, chromosome 4p deletion, 4p16.3 deletion, rare genetic disorder, developmental delay, intellectual disability, seizures, craniofacial abnormalities, congenital anomalies, genetic syndrome, pediatric genetics

#WolfHirschhornSyndrome #WHS #RareGeneticDisorder #Chromosome4p #GeneticDeletion #DevelopmentalDisorders #PediatricGenetics #IntellectualDisability #SeizureDisorders #CongenitalAnomalies #ClinicalGenetics #HumanGenetics


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