RSS is short for Russell-Silver Sydrome. It’s also frequently referred to as Russell-Silver Dwarfism. But, the dwarfism (short stature) aspect of it isn’t a required symptom. Molly is anything but short-statured, but she has 90-95% of the other symptoms. It is almost always connected with SGA (small-gestational-age), or IUGR (intra-uterine-growth-retardation).

RSS is diagnosed by a doctor’s observation. At the moment, there is no lab test that can be run to make a conclusive diagnosis. It is a genetic disorder, but not yet tied to one specific genotype.

Some of the ‘symptoms’ or ‘red flags’ for this disorder:

• Consistently low weight-for-height measurements (FTT)
• Lack of interest in eating
• Body Asymmetry (this one is seen in MOST cases)
• Inadequate ‘catch-up’ growth during first two years
• Broad forehead
• High and narrow palate
• clinodactyly
• syndactyly
• cafe-au-lait spots
• dimples in hips and shoulder blades
• scoliosis
• prominent, low set, or backward rotated ears
• Underdeveloped chin and midface
• small triangular jaw
• Abnormally large head for body size (side effect of FTT)
• Arm span less than height (short arms)
• Poor muscle tone/lack of muscle mass
• Flat-narrow feet
• Short, stubby fingers and toes
• Unusually high-pitched voice in early years
• cryptorchidism
• hypospadius
• Bluish tint to the whites of the eye
• Intestinal movement abnormalities (Reflux, delayed stomach emptying/vomiting, constipation)
• Fasting hypoglycemia
• Metabolic Acidosis
• Delay of Gross and Fine Motor Development
• Kidney abnormalities (Horshoe Kidney, Posterior urethral valves, Renal tubular acidosis, Hydronephrosis)
• Delayed bone age early on, with fast advancement later
• Late closure of anterior fontanel
• Precocious Puberty
• ADD and/or specific Learning Disabilities
• Growth Hormone Deficiency
• Absence of second premolars
• Lack of subcutaneous fat

That is a rundown of the many symptoms that can be present. Tomorrow I will go into more of what it means for a child/their family growing up with RSS. How some of the symptoms can affect your life (night sweats, LD’s)…and how some are just purely physical manifestations that don’t affect your life.