What is Russell-Silver syndrome disease?
Russell-Silver syndrome (RSS) is a rare disorder characterized by intrauterine growth restriction (IUGR), poor growth after birth, a relatively large head size, a triangular facial appearance, a prominent forehead (looking from the side of the face), body asymmetry and significant feeding difficulties.
What are the symptoms of Russell-Silver syndrome?
Signs and symptoms may include:
- Intrauterine growth restriction (poor growth before birth)
- Low birth weight.
- Head that appears large in relation to body size (relative macrocephaly)
- Poor appetite and feeding difficulties.
- Hypoglycemia.
- Poor growth after birth, leading to short stature.
- Scoliosis.
Is Russell-Silver syndrome a form of dwarfism?
Ian has Russell-Silver syndrome (RSS), a form of primordial dwarfism that affects 1 in 100,000 babies, according to the National Institutes of Health. Without growth-hormone treatment, boys will only reach an average height of about 5 feet 1 inch, and girls will only grow to about 4 feet 10 inches.
Is spastic paraplegia a motor neuron disease?
Among the motor neuron diseases, three share the clinical features of prominent upper motor neuron signs–amyotrophic lateral sclerosis (ALS), primary lateral sclerosis (PLS) and the hereditary spastic paraplegias (HSP).
How does Russell-Silver syndrome happen?
Researchers suspect that 30 to 50 percent of all cases of Russell-Silver syndrome result from changes in a process called methylation on the short (p) arm of chromosome 11 at position 15 (11p15). Methylation is a chemical reaction that attaches small molecules called methyl groups to certain segments of DNA.
Is Russell-Silver syndrome a disability?
LP’s history and test findings yielded a profile consistent with a nonverbal learning disability, with significantly higher verbal compared to nonverbal intelligence, deficient visual-spatial memory, fine motor coordination and motor planning problems, relatively greater difficulty in math compared to other achievement …
How do people get Russell-Silver syndrome?
Rarely, Russell-Silver syndrome can run in families. In some affected families, the condition appears to have an autosomal dominant pattern of inheritance. Autosomal dominant inheritance means one copy of a genetic change in each cell is sufficient to cause the disorder.
Is Hereditary spastic paraplegia painful?
The pain is not directly due to HSP itself but is instead often caused by muscle weakness and gait abnormalities resulting from HSP. As certain muscles become weaker, other muscles need to compensate for that weakness. Compensatory measures create an awkward gait that causes strain on many muscles and joints.
How is silver spastic paraplegia syndrome gene interval reduced?
By recombination analysis in affected individuals, the Silver spastic paraplegia syndrome candidate gene interval was reduced from 13 to 5.9 cM and placed between markers D11S1765 and D11S987. By sequence analysis in affected individuals, 8 functional and positional candidate genes were excluded.
Why do we use a number sign for spastic paraplegia?
A number sign (#) is used with this entry because spastic paraplegia-17 (SPG17) is caused by heterozygous mutation in the BSCL2 gene ( 606158) on chromosome 11q12.
What are the different types of Silver syndrome?
Silver syndrome belongs to a group of genetic disorders known as hereditary spastic paraplegias. These disorders are characterized by progressive muscle stiffness (spasticity) and, frequently, development of paralysis of the lower limbs (paraplegia). Hereditary spastic paraplegias are divided into two types: pure and complex.
How old is a person with spg17?
Chaudhry et al. (2013) reported a man with SPG17. He had onset of weakness of the hands and feet at around 12 years of age. Examination at age 14 showed distal weakness and wasting with claw hands and flat feet, extensor plantar responses, mild tremor, and distal sensory impairment.
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