Phelan-McDermid Syndrome / 22q13 Deletion Syndrome 

Phelan-McDermid Syndrome / 22q13 Deletion Syndrome (Ring 22)

Phelan-McDermid Syndrome (PMS) is a rare disorder typically caused by a deletion (or other structural change) at the very tip of the q arm of chromosome 22 at the 22q13 region, or due to a variation in the SHANK3 gene. In about 10-20% of cases PMS results from the formation of a ring chromosome 22. 

The condition is variable, but most children will experience delays in development and speech. Many will also have low muscle tone resulting in physical delays, and issues with eating, sleeping, and behaviour. 

You will find the best and most comprehensive information at the Phelan McDermid-Syndrome Foundation website. The group is very active and holds informative conferences bi-annually.

More:

• PMSF Canada
• PMSF UK
• Unique Pamphlet on Phelan-McDermid Syndrome
• Unique Pamphlet on Ring 22
• NORD entry on Phelan-McDermid Syndrome
• GENE REVIEWS Entry on Phelan-McDermid Syndrome
• OMIM entry on Phelan-McDermid Syndrome

Search PUBMED for articles Phelan-McDermid Syndrome

Search PUBMED for articles on Ring 22

Join C22C’s Facebook Group to connect with other families.

Select References

Burdeus-Olavarrieta, M., Nevado, J., van Weering-Scholten, S., Parker, S., European Phelan-McDermid syndrome consortium, & Swillen, A. (2023). Consensus recommendations on communication, language and speech in Phelan-McDermid syndrome. European Journal of Medical Genetics, 66(5), 104745. https://doi.org/10.1016/j.ejmg.2023.104745 

Damstra, R. J., Vignes, S., European Phelan-McDermid syndrome consortium, & Mansour, S. (2023). Consensus recommendations on lymphedema in Phelan-McDermid syndrome. European Journal of Medical Genetics, 66(6), 104767. https://doi.org/10.1016/j.ejmg.2023.104767 

Dille, Y., Lagae, L., Swillen, A., & Buggenhout, G. V. (2023). Neurodevelopmental profile and stages of regression in Phelan-McDermid syndrome. Developmental Medicine and Child Neurology, 65(7), 917–925. https://doi.org/10.1111/dmcn.15482 

de Coo, I. F. M., Jesse, S., Le, T. L., Sala, C., & European Phelan-McDermid syndrome consortium (2023). Consensus recommendations on Epilepsy in Phelan-McDermid syndrome. European Journal of Medical Genetics, 66(6), 104746. https://doi.org/10.1016/j.ejmg.2023.104746 

Frank, Y., Levy, T., Lozano, R., Friedman, K., Underwood, S., Kostic, A., Walker, H., & Kolevzon, A. (2023). Gait Abnormalities in Children with Phelan-McDermid Syndrome. Journal of Child Neurology, 38(13-14), 665–671. https://doi.org/10.1177/08830738231204395 

García-Bravo, C., Martínez-Piédrola, R. M., García-Bravo, S., Rodríguez-Pérez, M. P., Martín-Gómez, A. S., Fernández-Gómez, G., & Palacios-Ceña, D. (2024). Living with and managing seizures among parents of children diagnosed with Phelan-McDermid syndrome: a qualitative study using in-depth interviews. European Journal of Pediatrics, 183(1), 253–262. https://doi.org/10.1007/s00431-023-05285-6 

García-Bravo, C., Palacios-Ceña, D., García-Bravo, S., Pérez-Corrales, J., Pérez-de-Heredia-Torres, M., & Martínez-Piédrola, R. M. (2022). Social and Family Challenges of Having a Child Diagnosed with Phelan-McDermid Syndrome: A Qualitative Study of Parents’ Experiences. International Journal of Environmental Research and Public Health, 19(17), 10524. https://doi.org/10.3390/ijerph191710524 

García-Bravo, C., Palacios-Ceña, D., Huertas-Hoyas, E., Pérez-Corrales, J., Serrada-Tejeda, S., Pérez-de-Heredia-Torres, M., Gueita-Rodríguez, J., & Martínez-Piédrola, R. M. (2022). “Your Life Turns Upside Down”: A Qualitative Study of the Experiences of Parents with Children Diagnosed with Phelan-McDermid Syndrome. Children (Basel, Switzerland), 10(1), 73. https://doi.org/10.3390/children10010073 

Gummere, B., Holder, J. L., Jr, Jimenez-Gomez, A., … Kolevzon, A. (2023). Updated consensus guidelines on the management of Phelan-McDermid syndrome. American Journal of Medical Genetics. Part A, 191(8), 2015–2044. https://doi.org/10.1002/ajmg.a.63312 

Jesse, S., Müller, H. P., Huppertz, H. J., Andres, S., Ludolph, A. C., Schön, M., Boeckers, T. M., & Kassubek, J. (2023). Neurodegeneration or dysfunction in Phelan-McDermid syndrome? A multimodal approach with CSF and computational MRI. Orphanet Journal of Rare Diseases, 18(1), 274. https://doi.org/10.1186/s13023-023-02863-7 

Koza, S. A., Tabet, A. C., Bonaglia, M. C., Andres, S., Anderlid, B. M., Aten, E., Stiefsohn, D., European Phelan-McDermid syndrome consortium, Evans, D. G., van Ravenswaaij-Arts, C. M. A., & Kant, S. G. (2023). Consensus recommendations on counselling in Phelan-McDermid syndrome, with special attention to recurrence risk and to ring chromosome 22. European Journal of Medical Genetics, 66(7), 104773. https://doi.org/10.1016/j.ejmg.2023.104773 

Landlust, A. M., Koza, S. A., Carbin, M., Walinga, M., Robert, S., Cooke, J., Vyshka, K., European Phelan-McDermid syndrome consortium, van Balkom, I. D. C., & van Ravenswaaij-Arts, C. (2023). Parental perspectives on Phelan-McDermid syndrome: Results of a worldwide survey. European Journal of Medical Genetics, 66(7), 104771. https://doi.org/10.1016/j.ejmg.2023.104771 

Levy, T., Gluckman, J., Siper, P. M., Halpern, D., Zweifach, J., Filip-Dhima, R., Holder, J. L., Jr, Trelles, M. P., Johnson, K., Bernstein, J. A., Berry-Kravis, E., Powell, C. M., Soorya, L. V., Thurm, A., Buxbaum, J. D., Sahin, M., Kolevzon, A., Srivastava, S., & Developmental Synaptopathies Consortium (2024). Clinical, genetic, and cognitive correlates of seizure occurrences in Phelan-McDermid syndrome. Journal of Neurodevelopmental Disorders, 16(1), 25. https://doi.org/10.1186/s11689-024-09541-0 

Matuleviciene, A., Siauryte, K., Kuiper, E., Grabrucker, A. M., & European Phelan-McDermid syndrome guideline consortium (2023). Consensus recommendations on chewing, swallowing and gastrointestinal problems in Phelan-McDermid syndrome. European Journal of Medical Genetics, 66(6), 104763. https://doi.org/10.1016/j.ejmg.2023.104763 

McCoy, M. D., Sarasua, S. M., DeLuca, J. M., Davis, S., Rogers, R. C., Phelan, K., & Boccuto, L. (2024). Genetics of kidney disorders in Phelan-McDermid syndrome: evidence from 357 registry participants. Pediatric Nephrology (Berlin, Germany), 39(3), 749–760. https://doi.org/10.1007/s00467-023-06146-y 

Mitz, A. R., Boccuto, L., & Thurm, A. (2024). Evidence for common mechanisms of pathology between SHANK3 and other genes of Phelan-McDermid syndrome. Clinical Genetics, 105(5), 459–469. https://doi.org/10.1111/cge.14503 

Moffitt, B. A., Oberman, L. M., Beamer, L., Srikanth, S., Jain, L., Cascio, L., Jones, K., Pauly, R., May, M., Skinner, C., Buchanan, C., DuPont, B. R., Kaufmann, W. E., Valentine, K., Ward, L. D., Ivankovic, D., Rogers, R. C., Phelan, K., Sarasua, S. M., & Boccuto, L. (2023). Sleep disturbances in Phelan-McDermid syndrome: Clinical and metabolic profiling of 56 individuals. Clinical Genetics, 104(2), 198–209. https://doi.org/10.1111/cge.14361 

Phelan K. (2023). The impact of Phelan-McDermid syndrome on the child and family. Developmental Medicine and Child Neurology, 65(7), 862–863. https://doi.org/10.1111/dmcn.15500

San José Cáceres, A., Landlust, A. M., Carbin, J. M., European Phelan-McDermid Syndrome consortium, & Loth, E. (2023). Consensus recommendations on sleeping problems in Phelan-McDermid syndrome. European Journal of Medical Genetics, 66(6), 104750. https://doi.org/10.1016/j.ejmg.2023.104750 

Schön, M., Lapunzina, P., Nevado, J., Mattina, T., Gunnarsson, C., Hadzsiev, K., Verpelli, C., Bourgeron, T., Jesse, S., van Ravenswaaij-Arts, C. M. A., European Phelan-McDermid syndrome consortium, & Hennekam, R. C. (2023). Definition and clinical variability of SHANK3-related Phelan-McDermid syndrome. European Journal of Medical Genetics, 66(7), 104754. https://doi.org/10.1016/j.ejmg.2023.104754 

Serrada-Tejeda, S., Sánchez-Herrera-Baeza, P., Martínez-Piédrola, R. M., Máximo-Bocanegra, N., Trugeda-Pedrajo, N., Rodríguez-Pérez, M.ªP., Fernández-Gómez, G., & Pérez-de-Heredia-Torres, M. (2023). Prospective One-Year Follow-Up of Sensory Processing in Phelan-McDermid Syndrome. Children (Basel, Switzerland), 10(6), 1086. https://doi.org/10.3390/children10061086 

Srivastava, S., Sahin, M., Buxbaum, J. D., Berry-Kravis, E., Soorya, L. V., Thurm, A., Bernstein, J. A., Asante-Otoo, A., Bennett, W. E., Jr, Betancur, C., Brickhouse, T. H., Passos Bueno, M. R., Chopra, M., Christensen, C. K., Cully, J. L., Dies, K., Friedman, K., van Balkom, I. D. C., Burdeus-Olavarrieta, M., Cooke, J., de Cuba, A. G., Turner, A., European Phelan-McDermid Syndrome consortium, Vogels, A., & Maruani, A. (2023). Consensus recommendations on mental health issues in Phelan-McDermid syndrome. European Journal of Medical Genetics, 66(6), 104770. https://doi.org/10.1016/j.ejmg.2023.104770 

van Eeghen, A. M., Stemkens, D., Fernández-Fructuoso, J. R., Maruani, A., Hadzsiev, K., ERN ITHACA Guideline Working Group, European Phelan-McDermid syndrome guideline consortium, & van Balkom, I. D. C. (2023). Consensus recommendations on organization of care for individuals with Phelan-McDermid syndrome. European Journal of Medical Genetics, 66(7), 104747. https://doi.org/10.1016/j.ejmg.2023.104747 

Vitrac, A., Leblond, C. S., Rolland, T., Cliquet, F., Mathieu, A., Maruani, A., Delorme, R., Schön, M., Grabrucker, A. M., van Ravenswaaij-Arts, C., Phelan, K., Tabet, A. C., & Bourgeron, T. (2023). Dissecting the 22q13 region to explore the genetic and phenotypic diversity of patients with Phelan-McDermid syndrome. European Journal of Medical Genetics, 66(5), 104732. https://doi.org/10.1016/j.ejmg.2023.104732 

Walinga, M., Jesse, S., Alhambra, N., European Phelan-McDermid syndrome consortium, & Van Buggenhout, G. (2023). Consensus recommendations on altered sensory functioning in Phelan-McDermid syndrome. European Journal of Medical Genetics, 66(5), 104726. https://doi.org/10.1016/j.ejmg.2023.104726