Silver-Russell dwarfism
From Free net encyclopedia
Silver-Russell dwarfism, also called Silver-Russell syndrome (SRS) or Russell-Silver syndrome (RSS) is a growth disorder occurring in approximately 1/75000 births. It is a genetic anomaly, and there are no tests to determine if this is what a child has. Symptoms are Intrauterine Growth Restriction (IUGR) combined with some of the following:
- Often a diagnosis of Small for Gestation Age (SGA) at birth.
- Feeding problems, the baby is uninterested in feeding and takes only small amounts with difficulty.
- Excessive sweating as a baby, especially at night, and a greyness or pallor of the skin. This may be a symptom of low blood sugar in the blood (hypoglycemia).
- Triangular shaped face with a small jaw and a pointed chin. The mouth tends to curve down.
- A blue tinge to the whites of the eyes in younger children.
- Head appears large - the head circumference may be of normal size which means it can appear large in comparison to a small body size.
- Wide and late closing fontanelle.
- Clinodactyly, the little finger on each hand may be small and curve inwards.
- Body asymmetry, one side of the body grows more slowly than the other.
- Continued poor growth with no "catch up" into the normal centile lines on growth chart
- Precocious puberty (occasionally).
- Gastroesophogeal Reflux.
Growth hormone therapy is sometimes as part of the treatment of SRS. It may aid growth even in cases where the patient does not have a growth hormone deficiency, and medical practicioners currently believe it can also help with other related issues such as blood sugar levels. It is not yet clear whether Growth hormone therapy will increase final height, and if SRS and growth hormone deficiency are linked.