Russell-Silver syndrome (RSS) is a rare growth disorder.
The wide spectrum of findings varies both in frequency and severity from one affected individual to another.
The majority of individuals with RSS are of normal intelligence, but motor skills (using hands and/or legs – walking difficulties) and/or speech delay is common.
It affects all genders and people of all ethnic backgrounds.
Cause
Genetically heterogeneous, meaning that different genetic abnormalities are known to cause the disorder.
Abnormalities involving chromosomes 7 or 11 have been found in up to 60% of RSS patients.
40% of patients with a clinical diagnosis of RSS, the underlying cause is still not known
Most cases are not inherited but are thought to be due to spontaneous mutations.
Abnormalities of the penis (opening of penis in wrong place), testicles (failure of testicles to fall to right position), or vagina (Blockage of the vagina)/Underdevelopment or malformation of genitals and urinary tract?
Slowed growth and/or shorter than average?
Head disproportionately large for the face?
Prominent forehead (looking from the side of the face)?
Triangular facial appearance?
Delayed closure of the ‘soft spot’ (anterior fontanelle) on the top of the head?
Bluish discoloration of the whites of the eyes (blue sclera) during infancy?
Small jaw and/or small mouth and/or Small lower part of the face?
Heart (cardiac) defects/atrial septal defect (‘hole in the heart’):
Short of breath and/or breathing difficulties (whether after exercise or not) and/or wheezing?
Regular and reoccurring chest infections?
Heart palpitations and/or irregular heartbeats?
Abnormalities of the kidneys/Pain in pelvis area and/or lower back and/or intense pain in the back or side (or moving pain from back to side) or in groin area?
Bone and joint movement problems and/or difficulty using arms and/or body and/or legs and/or lack of stamina and/or walking difficulties and/or crawling difficulties and/or rolling over difficulties?
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Detailed Information
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