Jaguar Gene Therapy Community Letter & FAQ *UPDATED 11/5/24*
Jaguar has released an updated community letter and FAQ document that provides new details about the JAG201 clinical study. This resource…
Testes Genéticos de Seguimento na Síndrome de Phelan-McDermid (PMS) – Portuguese
Testes Genéticos de Seguimento na Síndrome de Phelan-McDermid (PMS)
Parâmetros de Prática Clínica para avaliação e monitorização médica na Síndrome de Phelan-McDermid – Portuguese
Este diagrama identifica as áreas de especialidades médicas que podem ser úteis na avaliação de uma pessoa diagnosticada com a Síndrome de Phelan-McDermid (PMS), as condições que podem estar presentes, os exames que podem ajudar no diagnóstico e a abordagem multidisciplinar.
How a Genetic Counselor Can Help You
A Global Genes resource: Since most rare diseases are caused by changes in your genes, genetic testing is often part of the journey. But understanding your options may be challenging. Partnering with a genetic counselor can help you make the best choice for you and your family. What is a Genetic Counselor? A genetic counselor is a healthcare professional with special training in counseling and medical genetics. They can help you understand the diagnostic process and can advocate for you to obtain emotional and financial support and get the best possible care.
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.
Conference Session Descriptions
Learn more about the session topics in the 2024 Phelan-McDermid Syndrome Foundation (PMSF) Family Conference agenda. These sessions range from research discoveries, research studies, medical care guidelines and a myriad of topics about living with Phelan-McDermid syndrome.
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…
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).
Neurofibromatosis type 2 (NF2)
Individuals with Phelan-McDermid syndrome caused by a 22q terminal deletion and a ring chromosome are at increased risk for Neurofibromatosis type 2 (NF2). However, the prevalence of NF2 in individuals with PMS and a r (22) is unknown.
Chromosome 22 Ring
This resource is authored by Katy Phelan, PhD., et al Ring chromosome 22 is a rare genetic condition resulting when one…