For many people that are part of the Child Growth Foundation, you will know there is more than just Turner Syndrome, there are many different height problems, one height problem being Russell Silver Syndrome. The reason I choose this one particular height problem is, the other day there was a conference set up by the Child Growth Foundation and, we met one girl with Russell Silver Syndrome as she joined the Turners group. It was the first time I have heard about this particular height problem and so I thought I would tell others about it as once I researched it a bit I found it to be an interesting topic and, I wanted to tell other people about what my friend has to get the problem more widely known so that people hear about it and know what it is.
Russell Silver Syndrome is very rare occurring in approximately 1/75000 births. Little is known about the cause of this condition, in the majority of families only one child is affected but very occasionally families do have more than one affected child, This may suggest a genetic basis for this condition and this is the subject of much research. In some children with the milder forms of IUGR a genetic irregularity has been found. (From the Child Growth Foundations website www.childgrowthfoundation.org)
Almost, without exception, every RSS individual has:
Low birth weight (Intrauterine Growth Retardation)
Decreased birth length
Triangular shaped face (lessens with age)
Scaphocephaly (long narrow head) at birth
Normal head size appearing large because of reduced body length and weight
Postnatal growth retardation
Poor appetite in early years
Fifth finger clinodactyly (incurving)
Common characteristics:
Hypoglycemia (low blood sugar) in infancy and early childhood (2-3 years)
Asymmetry (unequal in length or size)
Late closure of the fontanel (soft spot)
Broad forehead
Hypoplastic mandible (small chin)
Downturned corners of the mouth
Thin upper lip
Crowding of teeth
Microdontia (small teeth)
Unusual, high-pitched voice (usually disappears in later years)
Abnormal ears (low-set, small, and/or prominent)
Syndactyly of the toes (fused or webbed - degree of fusing varies)
Delayed bone age
Weak muscle tone
Developmental delays
Rarer traits:
Blue sclerae (a blue tinge in the whites of the eye)
High-arched palate
Frequent ear infections or chronic fluid in the ear (can result in temporary hearing loss)
Migraine headaches
Vertebral abnormalities
Renal abnormalities
Reflux
Precocious (earlier than usual) puberty
Growth hormone deficiency
Cafe-au-lait spots (flattened, irregularly spaced oval spots which are usually the color of cream and coffee)
High energy
ADD
Passing out spells
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