Publication:

A rare genetic enigma: insights from the first neonatal Phelan-McDermid syndrome case in the Middle East

Phelan-McDermid syndrome (PMS), also known as 22q13 deletion syndrome, is a rare genetic disorder characterized by a spectrum of clinical features which include intellectual disability, speech delay, hypotonia, autism spectrum disorder, and seizures. This case report presents the first documented case of diagnosed neonatal PMS in the Middle East, highlighting a newborn male who exhibited respiratory distress, convulsions, hypotonia, and dysmorphic features shortly after birth. Diagnosis was confirmed by performing whole exome sequencing (WES), which revealed a heterozygous deletion in the 22q13 region involving the SHANK3 gene. The case emphasizes the utility of genetic molecular testing in diagnosing such rare syndromes and underscores the role of genetic counseling, specifically in consanguineous families. Increased research and awareness into PMS, particularly in regions with high consanguinity rates such as the Middle East, are essential for improved diagnosis and management.