Table 6.

Silver-Russell Syndrome: Treatment of Manifestations

Manifestation/ConcernTreatmentConsiderations/Other
Growth abnormalities Early referral to endocrinologist & consideration of GH therapy 1Mgmt is best undertaken in center w/experience w/growth disorders.
Hypoglycemia Hypoglycemia should be prevented & aggressively managed if present.
  • Frequent feeding, avoidance of prolonged fasting between feeds (≤4 hours in infants), & complex carbohydrates are recommended.
  • Monitoring for urinary ketones after prolonged fasting (incl when infants start sleeping through the night) or w/excess physical activity or illness is recommended.
Endocrine (other) Early referral to endocrinologist for signs of premature adrenarche, early & accelerated central puberty, & insulin resistancePersonalized treatment w/GnRH analogs for at least 2 yrs in children w/evidence of central puberty (starting no later than age 12 yrs in girls & age 13 yrs in boys) can be considered to preserve adult height potential. 2, 3
GI & feeding difficulties Early referral to GI specialist &/or dietician to initiate early treatment
  • Measures incl nutritional & caloric supplements; treatment of GERD; speech &/or occupational therapy for oral motor problems & oral aversion; appetite stimulants such as cyproheptadine; enteral feeding w/gastrostomy or jejunostomy tube for extreme cases of feeding aversion &/or GERD w/ or w/o fundoplication
  • With non-volitional feeding, too rapid & excessive weight gain must be avoided.
Skeletal abnormalities Early referral to orthopedic surgeon for mgmt of limb length discrepancy & scoliosis
  • Initial treatment of limb length discrepancy can incl use of a shoe lift. In older children, limb lengthening w/distraction osteogenesis is a commonly used procedure. When single-segment limb lengthening is sufficient, limb lengthening w/femoral internal distracters is generally done prior to completion of growth but close to final attainment of height. For young children w/leg length discrepancy >4 cm, lengthening is done in the lower segment (tibia) w/external fixators. 4
  • Scoliosis & kyphosis should be monitored & early bracing is recommended. Many individuals will need corrective surgery. 5
Craniofacial anomalies Early referral to craniofacial expert for severe micrognathia, cleft palate, &/or complex dental anomalies
  • Dental hygiene & dental crowding is managed routinely by pediatric dentist &/or orthodontist.
  • Early dental care, orthodontia for dental crowding, & maxillofacial surgery may be needed in older children once growth is completed.
Genitourinary anomalies Early referral to urologist for children w/hypospadias &/or cryptorchidism.Males w/micropenis & females w/internal genitourinary anomalies (e.g., Mayer-Rokitansky-Kuster-Hauser syndrome) benefit from referral to multidisciplinary DSD center.
Developmental delay /
Intellectual disability 		See Developmental Delay / Intellectual Disability Management Issues.
Family/Community
  • Ensure appropriate social work involvement to connect families w/local resources, respite, & support.
  • Coordinate care to manage multiple subspecialty appointments, equipment, medications, & supplies.
  • Ongoing assessment of need for palliative care involvement &/or home nursing
  • Consider involvement in adaptive sports or Special Olympics (enrollment for children & adults w/lower IQ & developmental disabilities).

DSD = disorders of sex development; GH = growth hormone; GI = gastrointestinal; GnRH = gonadotropin-releasing hormone

1.

Children with SRS have benefited from GH supplementation [Toumba et al 2010, Binder et al 2013]. Smeets et al [2016] found that height gain in children with SRS treated with GH was similar to that in children who did not have SRS, although final heights were less in individuals with SRS because their heights were lower at the initiation of treatment. A study by Rizzo et al [2001] demonstrated significant increase in height in children with SRS treated with GH but without a change in body or limb asymmetry.

2.
3.

Many children with SRS do not achieve normal stature even with administration of human GH if rapid bone age advancement during puberty is not managed.

4.
5.

From: Silver-Russell Syndrome

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