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Silver-Russell Syndrome

An imprinting disorder characterized by intrauterine and postnatal growth restriction, relative macrocephaly, body asymmetry, and feeding difficulties caused most often by hypomethylation of imprinting center 1 on chromosome 11p15 or maternal uniparental disomy of chromosome 7.

Written by: Saygı Hospital Health Guide Editorial Board
Last updated:

This content has been compiled by the Saygı Hospital Health Guide Editorial Board and is periodically reviewed by a specialist physician.

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What is Silver-Russell Syndrome?

Silver-Russell syndrome is a clinically and genetically heterogeneous imprinting disorder; about 50 percent of patients have hypomethylation of the H19/IGF2 imprinting control region on chromosome 11p15.5, while 7 to 10 percent have maternal uniparental disomy of chromosome 7, with smaller fractions due to other imprinting defects.

Diagnosis is supported by the Netchine-Harbison clinical scoring system, requiring at least 4 of 6 features: small for gestational age, postnatal growth failure, relative macrocephaly at birth, prominent forehead, body asymmetry, and feeding difficulties or low body mass index.

Management is multidisciplinary and lifelong, focusing on optimizing nutrition in early childhood, recombinant human growth hormone therapy from early childhood, monitoring for early central puberty and adrenarche, leg-length asymmetry orthopedic care, and neurodevelopmental support.

Symptoms

Severe intrauterine growth restriction with birth weight and length below the 3rd percentile
Postnatal failure to thrive with persistent short stature
Relative macrocephaly: head circumference disproportionately large compared to length and weight
Triangular face with prominent forehead, narrow chin, and downturned corners of the mouth
Body or limb-length asymmetry, fifth finger clinodactyly
Feeding difficulties, gastroesophageal reflux, and severe hypoglycemia in infancy

Risk Factors

Sporadic occurrence in most cases with low recurrence risk in families
Assisted reproductive technology has been associated with higher rates of imprinting disorders including Silver-Russell syndrome
Maternal uniparental disomy of chromosome 7 due to trisomy rescue events
Family history of Silver-Russell syndrome, especially with chromosome 11p15 duplications which can be inherited

When to See a Doctor?

If you experience any of the following symptoms, seek medical attention promptly:

  • Pediatric referral for any infant with severe intrauterine growth restriction and persistent failure to thrive after one year of age
  • Severe feeding difficulties, vomiting, or recurrent fasting hypoglycemia in a small-for-gestational-age infant
  • Persistent short stature, body asymmetry, or characteristic facial features in a child — referral for genetic testing
  • Premature adrenarche or rapid pubertal progression in a child with known or suspected Silver-Russell syndrome

Treatment Methods

01
Nutritional rehabilitation in infancy and early childhood, sometimes with high-calorie formulas, gastrostomy in severe cases, and avoidance of overfeeding once growth has caught up
02
Recombinant human growth hormone therapy starting in early childhood under pediatric endocrinology supervision to improve growth velocity and adult height
03
Treatment of premature adrenarche and central puberty with GnRH analogues to extend the growth window when indicated
04
Orthopedic management of body or leg-length asymmetry: shoe lifts, monitoring, and corrective surgery (epiphysiodesis) when indicated
05
Genetic confirmation of the underlying molecular subtype with appropriate genetic counseling, plus developmental, speech, and feeding therapy as needed

Which Department to Visit?

You can visit our Endokrinoloji department for these complaints. Our specialist physicians will create the most suitable treatment plan for you.

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Health Disclaimer: The information on this page is prepared for general informational purposes only. It does not replace medical diagnosis and treatment. Please consult your physician for your complaints. Saygı Hospital does not accept responsibility for actions taken based on the information on this page.