What does SGS mean in SYNDROMES
Schinzel-Giedion Syndrome (SGS) is an extremely rare genetic disorder caused by alterations to the SMARCB1 gene, leading to multiple physical anomalies and developmental delays. Q & A:
SGS meaning in Syndromes in Medical
SGS mostly used in an acronym Syndromes in Category Medical that means Schinzel Giedion Syndrome
Shorthand: SGS,
Full Form: Schinzel Giedion Syndrome
For more information of "Schinzel Giedion Syndrome", see the section below.
Essential Questions and Answers on Schinzel Giedion Syndrome in "MEDICAL»SYNDROMES"
What causes Schinzel-Giedion Syndrome?
Schinzel-Giedion Syndrome is caused by mutations in the SMARCB1 gene.
What are some of the physical anomalies associated with SGS?
Common physical symptoms of SGS include microcephaly, widely-spaced eyes, a long face, low set ears, cleft lip or palate, heart defects and other organ malformations. Additionally, affected individuals may have unusually short fingers and toes.
What are some of the developmental delays associated with SGS?
Affected individuals with SGS typically experience intellectual disability and delayed motor development. Other neurological abnormalities such as seizures or abnormal eye movements may be present as well.
Final Words:
Schinzel-Giedion Syndrome is a rare genetic disorder that affects many aspects of development including physical anomalies and cognitive delays. Individuals diagnosed with SGS should be monitored closely by a medical professional in order to ensure they receive necessary treatments as soon as possible.
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