Phelan-McDermid Syndrome

phelan-McDermid Syndrom Foundation

PMS is a rare genetic condition caused by a deletion on the terminal end of chromosome 22 in the region od 22q13. Common symptoms of PMS include arachnoid cyst, dilation of cerebral ventricles, aspiration, autism or autistic-like behavior, gastrointestinal issues, severe developmental delays, gross motor delays, severe intellectual disability, inability to sweat, hypotonia, lymphedema, recurrent otitis media, seizures, speech delays/absent speech, subluxation of the hip, vesicoureteral reflux, and ptosis/strabismus. There is no cure or treatment specifically for PMS.