russell-silver syndrome…

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silver-russell syndrome, silver syndrome, russell-silver syndrome, disorder present at birth, diagnosed no later than early childhood, characterized by poor growth demonstrated by low birth weight, short stature, adult height, less than 5 feet, asymmetry, in the size, the two halves, parts, facial features, characteristic appearance, triangular shape, broad forehead, small pointed chin, thin wide mouth, children, russell-silver syndrome, at risk, developmental, motor delays, learning disabilities, no one cause known, rare disorder, most cases, sporadic, an isolated finding, family, no other affected family member, features associated, russell-silver syndrome have been described in association, many genetic abnormalities, chromosome rearrangements, uniparental disomy, upd, autosomal dominant, recessive families, rarely reported, than 400 cases have been reported, estimates of incidence range, 1 in 3,000 to, 1 in 100,000, males, females, equally affected, low birth weight, poor growth, infancy, childhood, proportionally short stature, normal skeleton, frequently delayed bone age, normal head circumfrence, the appearance of "pseudohydrocephalus", typical facial characteristics, broad, prominent forehead, small triangular face, narrow chin, limbs of differing lengths, fifth finger clinodactyly, curving, the pinky toward the ring finger, brachydactyly, short, stubby fingers, toes, cafe-au-lait, coffee, milk, colored spots, arm span less than height, short arms, following genitourinary problems present, hypospadias, abnormality, urethra exits the body underneath the penis, tip, cryptorchidism, undescended testes, kidney anomalies, hydronephrosis, renal tubular acidosis, posterior urethral valves, horseshoe kidney, following gastrointestinal disorders present, gasroesophageal reflux disease, esophagitis, food aversion, failure to thrive, no specific laboratory tests, the diagnosis of russell-silver syndrome, tests performed, blood sugar, growth hormone, skeletal survey, to exclude skeletal dysplasia, mimic russell-silver syndrome, chromosome abnormalities, bone age is delayed, estimated that 7-10% of patients, rss have a defective gene, maternal uniparental disomy, chromosome 7, great majority of patients, rss to date have no identifiable cause, diagnosis, predominant treatment goals pertain to stature, growth, growth hormone replacement helpful, a growth hormone deficiency is discovered, optimal calorie intake, early intervention, physical therapy, special education, older children, adults, not show typical features, clearly, infants, younger children, intelligence normal, the patient, learning disability, self esteem, emotional problems related to appearance, chewing, speaking difficulty, jaw is very small, learning disablities, many specialists involved in treatment depending upon the physical features, developmental concerns, clinical geneticist to help, the diagnosis of russell-silver syndrome, gastroenterologist, nutritionist to optimize caloric intake, enhance growth, feeding therapy, developmental evaluation places the patient in early intervention, special education programs, physical therapy, occupational therapy, endocrinologist to consider the use of a growth hormone, the child is school-aged.