###### Abstract
\begin{table}
\begin{tabular}{c c c} \hline \hline  & **PMS Individuals with 22q13** & **PMS Individuals with** \\
**Signs/Symptoms** & **Deletions (\%) (Without SHANK3** & **SHANK3 Variants (\%)** \\  & **Haploinsufficiency)** & **SHANK3 Variants (\%)** \\ \hline Development & & \\ Global developmental delay & 98\% & 96\% \\ Marked speech impairment & 88\% & 31\% \\ Neurology & & \\ Seizures (one or more) & 27\% & 26\% \\ Hypotonia & 74\% & 82\% \\ Structural brain anomalies & 53\% & 29\% \\ Senses & & \\ Vision disturbances & 22\% & 26\% \\ Strabisimus & 24\% & 14\% \\ Hearing loss & 8\% & 10\% \\ Increased pain tolerance & 65\% & 79\% \\ Behaviour & & \\ ASD & 57\% & 79\% \\ Hyperactivity & 29\% & 72\% \\ Aggression & 19\% & 37\% \\ Self-injury & 13\% & 30\% \\ Sleep disorder & 26\% & 52\% \\ Internal Organs & & \\ Gastro-oesophageal reflux & 25\% & 17\% \\ Cardiac anomalies & 13\% & 7\% \\ Frequent airway infections & 27\% & 32\% \\ Urogenital problems & 15\% & 0\% \\ Renal abnormalities & 15\% & 0\% \\ Growth & & \\ Short stature & 9\% & 10\% \\ Tall stature & 21\% & 7\% \\ Craniofacial features & & \\ Dolichocephaly & 26\% & 7\% \\ Long eyelashes & 48\% & 49\% \\ Down-slanting palpebral fissures & 22\% & 30\% \\ Periorbital fullness & 29\% & 18\% \\ Potsis & 22\% & 7\% \\ Epicanthal folds & 32\% & 21\% \\ Ear anomalies & 47\% & 39\% \\ Wide nasal bridge & 45\% & 36\% \\ Broad nose & 48\% & 38\% \\ Short philtrum & 16\% & 0\% \\ Thin upper vermillion & 27\% & 27\% \\ Thick lower vermillion & 9\% & 24\% \\ Malocclusion & 37\% & 34\% \\ \hline \hline \end{tabular}
\end{table} 
Table 1: Modified classification of the clinical features of Phelan–McDermid syndrome, as described by [PERSON] et al., in patients with 22q13 deletions without SHANK3 haploinsufficiency and in individuals with SHANK3 variants. No clinical diagnostic criteria have been definitively established for SHANK3-related PMS [26]. The diagnosis of PMS relies on the identification of a 22q13 chromosomal deletion involving the SHANK3 gene or a pathogenic variant within the gene itself. Genetic testing methods include exome or genome sequencing, chromosomal microarray, single-gene testing, and multigene panels [26,36]. The diagnostic process begins with the detection of SHANK3 deletions or duplications, followed, if necessary, by gene sequencing. SHANK3-unrelated PMS is rare and requires a complex analysis: patients must have a 22q13 deletion that does not involve SHANK3 but still exhibits the typical clinical features of the syndrome [26,37]. The differential diagnosis includes several conditions, such as autism, cerebral palsy, and syndromes like Angelman, Prader-Willi, fragile X, Williams-Beuren, and Smith-Magenis, as well as other rare genetic syndromes [23,38,39,40,41,42,43,44]. The aim of this scoping review, focusing on the analysis of a unique case in the literature (hemifacial lymphedema in a patient with PMS), was to explore and map the existing scientific literature on the orofacial manifestations of PMS. This review analyzes patients with orofacial manifestations associated with PMS, evaluating them based on sex/age, general characteristics, orofacial traits, and genetic panel. Only studies in English with data on human patients were included, while studies on animal models and reviews were excluded.