Phelan McDermid syndrome (PMS): systemic features
Written and reviewed by Dr Ibrahim Imam, Consultant Neurologist. Last reviewed .
Phelan McDermid syndrome (PMS): systemic features. Large fleshy hands, Syndactyly, Clinodactyly, Dysplastic toenails. Fully referenced neurology checklist.
Skeletal features
- Large fleshy hands
- Syndactyly
- Clinodactyly
- Dysplastic toenails
- Sacral dimple
Gastrointestinal features
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Ocular features
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Other systemic 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.
- Simenson K, Õiglane-Shlik E, Teek R, Kuuse K, Õunap K. A patient with the classic features of Phelan-McDermid syndrome and a high immunoglobulin E level caused by a cryptic interstitial 0.72-Mb deletion in the 22q13.2 region. Am J Med Genet A 2014; 164A:806-809.
