Comprehensive, easy-to-understand information about this condition
How we create this content →Patient Advocacy Groups (PAGs) provide support, resources, and community for patients and caregivers.
Consider asking your healthcare providers these condition-specific questions
European rare disease database
Patient Advocacy Groups (PAGs) provide support, resources, and community for patients and caregivers.
Consider asking your healthcare providers these condition-specific questions
European rare disease database
The documentation for Phelan-McDermid syndrome is limited primarily because it affects a small population, making extensive clinical studies challenging. The genetic basis has only recently garnered attention, and ongoing research is needed to fully characterize the clinical features and implications of this condition.
To navigate your care effectively, seek a specialist in genetic disorders, particularly one with experience in neurodevelopmental conditions. The Phelan-McDermid Syndrome Foundation offers resources and support for affected families, which can be found at https://pmsf.org. Consider participating in patient registries or natural history studies to contribute to the understanding of this syndrome. Genetic counseling may also be beneficial, especially given the unclear inheritance pattern.
There are several orphan drugs designated for Phelan-McDermid syndrome, including AAV2/9-miniSHANK3, Cyclo(-L-Glycyl-L-2-Allylproline), and insulin-like growth factor-1 (IGF-1). These therapies are in various stages of development, aiming to address the underlying genetic issues associated with the condition. For more information on clinical trials, you can search ClinicalTrials.gov for updates on ongoing research efforts.
Actionable guidance for navigating care for Phelan-McDermid syndrome due to SHANK3 mutation
To navigate your care effectively, seek a specialist in genetic disorders, particularly one with experience in neurodevelopmental conditions. The Phelan-McDermid Syndrome Foundation offers resources and support for affected families, which can be found at https://pmsf.org. Consider participating in patient registries or natural history studies to contribute to the understanding of this syndrome. Genetic counseling may also be beneficial, especially given the unclear inheritance pattern.
Consider asking your healthcare providers these condition-specific questions
Connect with organizations supporting the Phelan-McDermid syndrome due to SHANK3 mutation community
Helpful links for rare disease information and support
Clinical profile data for this condition is not yet available. Phenotype information may still be loading below.
Patient Advocacy Groups (PAGs) provide support, resources, and community for patients and caregivers.
Consider asking your healthcare providers these condition-specific questions
European rare disease database
AI-Generated Content: This summary was generated using AI. Content has been fact-checked. Always consult with qualified healthcare providers for medical guidance.
Kisho delivers this disease record via API, including phenotypes (HPO), genes, orphan drug designations, screening status, and PAG mapping, with version history and governance.