Phelan McDermid syndrome (PMS): neurological features
Written and reviewed by Dr Ibrahim Imam, Consultant Neurologist. Last reviewed .
Phelan McDermid syndrome (PMS): neurological features. This is caused by deletions of the SHANK3 gene. Fully referenced neurology checklist.
Genetics
- This is caused by deletions of the SHANK3 gene
- This is on chromosome 22q
Developmental features
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Dysmorphic features
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Seizures
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Stereotypic movements
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Associated tumours
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Differential diagnosis
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Electroencephalogram (EEG)
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Magnetic resonance imaging (MRI) brain: features
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References
- Phelan MC. Deletion 22q13.3 syndrome. Orphanet J Rare Dis 2008; 3:14.
- Phelan K, McDermid HE. The 22q13.3 Deletion Syndrome (Phelan-McDermid Syndrome). Mol Syndromol 2012; 2:186-201.
- Figura MG, Coppola A, Bottitta M, et al. Seizures and EEG pattern in the 22q13.3 deletion syndrome: clinical report of six Italian cases. Seizure 2014; 23:774-779.
- Reierson G, Bernstein J, Froehlich-Santino W, et al. Characterizing regression in Phelan McDermid Syndrome (22q13 deletion syndrome). J Psychiatr Res 2017; 91:139-144.
- Oberman LM, Boccuto L, Cascio L, Sarasua S, Kaufmann WE. Autism spectrum disorder in Phelan-McDermid syndrome: initial characterization and genotype-phenotype correlations. Orphanet J Rare Dis 2015; 10:105.
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