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The presence of other particular features (especially those atypical for RSS) should prompt consideration of a diagnosis other than RSS. Atypical features may include microcephaly; notable global developmental delay or intellectual disability (without a related explanation); absence of severe feeding difficulties; the presence of additional congenital anomalies; and facial dysmorphism. Disproportionate short stature is suggestive of skeletal dysplasia, and photosensitivity or recurrent respiratory infections may be suggestive of chromosome breakage disorders. Because RSS is generally sporadic (not
People with a questions about a possible genetic diagnosis are encouraged to meet with a genetics professional who can provide detailed information and support.