National Center for Advancing and Translational Sciences Genetic and Rare Diseases Information Center, a program of the National Center for Advancing and Translational Sciences

Russell-Silver syndrome

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I am a speech-language pathologist who has a student that was recently diagnosed with RSS. I have attempted to research the impacts of RSS on speech and language development, but have only found very generic information such as these children have small jaws and mouth and often have speech and learning delays. Do you have any specific information regarding the types of speech disorders that these children experience? Any information would be helpful since I am unfamiliar with this syndrome.
Detailed information about the speech and language problems in children with Russell-Silver syndrome (RSS) is limited. Specific problems with speech delay have been reported, particularly in people with a certain genetic cause for RSS called maternal uniparental disomy of chromosome 7 (matUPD7).[1] When only maternal copies of chromosome 7 are inherited, there are no chromosome 7 genes inherited from the father. Developmental verbal dyspraxia (DVD) has been reported in people without a paternal copy (or working copy) of a specific gene on chromosome 7 called FOXP2.[2] People with RSS due to matUPD7 also do not have a paternal copy of the FOXP2 gene; this may be the cause of DVD in these cases.

A few people with RSS and speech delay have been described in the medical literature. One study noted poor perceptual motor skills, and expressive and receptive language problems.[3] Another study described 4 people with uniparental disomy for chromosome 7 that all had speech delay, particularly with problems in articulation. The first person described had dysphasia-like problems caused by difficulties in articulation, mostly because of dyspraxia in the vocal muscles, and significant problems in finding the appropriate words. The second person had normal psychomotor development, and speech delay with multiple articulation problems. A third person had marked speech delay, mainly in producing speech. She understood speech well, but produced only rare one- or two-word sentences, and communicated mostly by gestures and sign language. The fourth person described had normal oral motor functions, somewhat delayed psychomotor development, and speech delay with articulation problems.[4]
Last updated: 2/12/2014

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  1. Wakeling EL. Silver-Russell syndrome. Arch Dis Child. December, 2011; 96(12):1156-1161. Accessed 2/11/2014.
  2. Feuk L et. al. Absence of a Paternally Inherited FOXP2 Gene in Developmental Verbal Dyspraxia. Am J Hum Genet. November, 2006; 79(5):965-972. Accessed 2/11/2014.
  3. Kelly Y C Lai, David Skuse, Richard Stanhope, Peter Hindmarsh. Cognitive abilities associated with the Silver-Russell syndrome. Archives of Disease in Childhood. 1994; 71:490-496. Accessed 2/11/2014.
  4. Katarina Hannula, Juha Kere, Sinikka Pirinen, Christer Holmberg, Marita Lipsanen-Nyman. Do patients with maternal uniparental disomy for chromosome 7 have a distinct mild Silver-Russell phenotype?. J Med Genet. 2001; 38:273-278. Accessed 2/11/2014.