What is the pathophysiology of Silver-Russell syndrome (SRS)?

Updated: Feb 11, 2019
  • Author: Sunil Kumar Sinha, MD; Chief Editor: Luis O Rohena, MD, MS, FAAP, FACMG  more...
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Answer

Growth failure is the primary abnormality. The American College of Radiology has established guidelines regarding growth disturbances. [7]

Patients typically present with intrauterine growth retardation, difficulty feeding, failure to thrive, or postnatal growth retardation. Adequate catch-up growth often does not occur, and final adult height still is less than normal (≤ -3.6 standard deviations [SD]). See the image below.

Failure of growth in weight, length, and head circ Failure of growth in weight, length, and head circumference starting at birth, suggesting an organic etiology that occurred in utero.

Older children and adults do not manifest clinical features as clearly as infants or young children. Growth hormone insufficiency may be present. Abnormalities of spontaneous growth hormone (GH) secretion and subnormal responses to provocative growth hormone stimulation testing have been reported in a significant number of children with Silver-Russell syndrome. Facial dysmorphism is observed, with small triangular facies and normal head circumference. Because length usually is less than normal, the head appears disproportionately large. Intelligence may be normal, or the patient may have a learning disability. The limbs may be asymmetric, and camptodactyly (ie, fixed flexion of digits) or clinodactyly (ie, incurving) of one or more fingers may be present.


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