Deletion 22 q 13 Syndrome ( P helan‐ M c D ermid Syndrome)

Abstract

Abstract The deletion 22q13 syndrome results from loss of a segment of the distal long arm of chromosome 22. Simple deletions, rings, unbalanced translocations, and other less common structural chromosome abnormalities have been associated with this deletion syndrome. The major clinical features are neonatal hypotonia, global developmental delay, absent or severely delayed speech, and normal to accelerated growth. Facial features include dolichocephaly, full brow, flat midface, wide nasal bridge, bulbous nose, deep‐set eyes, ptosis, long eyelashes, puffy eyelids, full cheeks, and prominent ears. Other common features are large fleshy hands, dysplastic toenails, high tolerance to pain, and mouthing or chewing behaviors. Less common features are arachnoid cysts, lymphedema, and hearing loss. There are no apparent life‐threatening defects of the organ systems. Therapies to improve muscle tone, coordination, strength, cognitive skills, and communication skills are beneficial to many individuals. Haploinsufficiency for the gene SHANK3/PROSAP2 is the most likely cause for the neurological deficits associated with deletion 22q13. The eponym for deletion 22q13 is Phelan‐McDermid Syndrome