About Phelan-McDermid Syndrome – One Page Summary
This one-page information sheet provides a brief overview of Phelan-McDermid syndrome, including its genetics, symptoms, treatments, and how the Phelan-McDermid Syndrome…
Phenome‑wide profiling identifies genotype‑phenotype associations in Phelan‑McDermid syndrome
Phelan-McDermid syndrome is characterized by global developmental delay, intellectual disability, speech impairment, autism spectrum disorder, and hypotonia; other variable features include epilepsy, brain and renal malformations, and mild dysmorphic features. Here, we conducted genotype-phenotype correlation analyses using the PMS International Registry, a family-driven registry that compiles clinical data in the form of family-reported outcomes and family-sourced genetic test results.
PMSF Logo Style Guide
This document specifies the acceptable font and color usage for the official Phelan-McDermid Syndrome Foundation brand.
Medical Advisory: Understanding Mortality in Phelan-McDermid Syndrome
The Phelan-McDermid syndrome community has experienced profound grief and concern over the deaths of some of our beloved children and adults.…
US Updated consensus guidelines on the management of Phelan–McDermid syndrome
The objective of these updated clinical management guidelines was to: (1) reflect the latest in knowledge in PMS and (2) provide…
Voice of the Patient Report
This EL-PFDD meeting was modeled after the work of the FDA’s Patient Focused Drug Development (PFDD) initiative. PFDD is a systematic way of gathering patient perspectives on their condition and on available treatments. The information gathered at the meeting is presented in this Voice of the Patient report, a high-level summary of the perspectives generously shared by the families and caregivers of individuals living with PMS, who participated in the November 8, 2022, EL-PFDD meeting. The report also includes selected comments that were submitted through an online portal.
Editorial: Towards a European consensus guideline for Phelan-McDermid syndrome
In 2001, Katy Phelan and Heather McDermid described the clinical and cytogenetic characteristics of 37 people with a 22q13.3 deletion(Phelan et al., 2001). The 22q13.3 deletion syndrome was since then referred to as Phelan-McDermid syndrome (PMS) (OMIM#606232).Later on, the deletion of a single gene, i.e. SHANK3 (OMIM#606230),was found to be responsible for the majority of the clinical features.Individuals with a pathogenic variant in SHANK3 appeared to have a similar phenotype, that is also referred to as Phelan-McDermid syndrome (Schon ¨ et al., 2023, this issue; Vitrac et al., 2023, this issue). Sincenot all individuals referred to in the original publication of Phelan and McDermid may have had a deletion 22q13.3 including SHANK3 there has been some debate on how the phenotype should be called whenSHANK3 is not involved. Consequently, a distinction in different types ofPhelan-McDermid syndrome has been proposed: PMS SHANK3-relatedand PMS SHANK3-unrelated (Phelan et al., 2022).
European Consensus recommendations on Epilepsy in Phelan McDermid syndrome
Phelan-McDermid syndrome (PMS) is a 22q13.3 deletion syndrome that presents with a disturbed development, neurological and psychiatric characteristics, and sometimes other…
European Consensus Recommendations on Communication, Language and Speech in Phelan-McDermid Syndrome
Phelan-McDermid syndrome is a genetic condition primarily caused by a deletion on the 22q13.3 region or a likely pathogenic/pathogenic variant of SHANK3. The main features comprise global developmental delay, marked impairment or absence of speech, and other clinical characteristics to a variable degree, such as hypotonia or psychiatric comorbidities.
European Consensus Recommendations on Altered Sensory Functioning in Phelan-McDermid syndrome
Altered sensory functioning is often observed in individuals with SHANK3 related Phelan-McDermid syndrome (PMS). Compared to typically developing individuals and individuals with an autism spectrum disorder, it has been suggested that there are distinctive features of sensory functioning in PMS.