Table 2. [Silver-Russell Syndrome: Frequency of Select Features]. - GeneReviews®

Feature	% of Persons w/Feature	Comment
Growth abnormalities	≥80%	Incl prenatal or postnatal growth failure, relative macrocephaly, &/or body asymmetry
Feeding difficulties	84%-100%	Or BMI ≤2SD at age 24 mos; or current use of a feeding tube or cyproheptadine for appetite stimulation
Skeletal features	75%	Incl hypoplastic elbow joints, fifth finger clinodactyly, joint contractures, brachydactyly, &/or scoliosis
Body asymmetry	68%	Limb &/or facial asymmetry
Dysmorphic & skin features	≥64%	Incl triangular-shaped face, frontal bossing &/or prominent forehead, micrognathia, downturned corners of mouth, dental crowding, shoulder dimples, & café au lait macules
Craniofacial anomalies	64%	Incl Pierre Robin sequence, cleft palate, &/or dental anomalies
Developmental delays	Global delays	20%-65%
Speech delays	39%-50%
Reduced muscle mass	56%
High-pitched voice	45%
Delayed close of anterior fontanelle	43%
Genitourinary abnormalities	40% (in males)	Incl hypospadias &/or cryptorchidism, renal anomalies (renal anomalies seen in 10%, primarily in upd(7)mat)
Fasting hypoglycemia	24%-29%	Excessive sweating w/ or w/o hypoglycemia has been reported in up to 67% of affected persons.
Heart defects	9%	Ventricular septal defects, atrial septal defects, patent ductus arteriosus

Feature

% of Persons w/Feature

Comment

Growth abnormalities

≥80%

Incl prenatal or postnatal growth failure, relative macrocephaly, &/or body asymmetry

Feeding difficulties

84%-100%

Or BMI ≤2SD at age 24 mos; or current use of a feeding tube or cyproheptadine for appetite stimulation

Skeletal features

75%

Incl hypoplastic elbow joints, fifth finger clinodactyly, joint contractures, brachydactyly, &/or scoliosis

Body asymmetry

68%

Limb &/or facial asymmetry

Dysmorphic & skin features

≥64%

Incl triangular-shaped face, frontal bossing &/or prominent forehead, micrognathia, downturned corners of mouth, dental crowding, shoulder dimples, & café au lait macules

Craniofacial anomalies

64%

Incl Pierre Robin sequence, cleft palate, &/or dental anomalies

Developmental delays

Global delays

20%-65%

Speech delays

39%-50%

Reduced muscle mass

56%

High-pitched voice

45%

Delayed close of anterior fontanelle

43%

Genitourinary abnormalities

40% (in males)

Incl hypospadias &/or cryptorchidism, renal anomalies (renal anomalies seen in 10%, primarily in upd(7)mat)

Fasting hypoglycemia

24%-29%

Excessive sweating w/ or w/o hypoglycemia has been reported in up to 67% of affected persons.

Heart defects

Ventricular septal defects, atrial septal defects, patent ductus arteriosus

From: Silver-Russell Syndrome

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Adam MP, Feldman J, Mirzaa GM, et al., editors.

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