Fragile X Syndrome Symptoms, Causes & Inheritance
This video is about Fragile X Syndrome also known as Martin Bell Syndrome or Marker X Syndrome. It is the most common inherited intellectual disability. It is caused by trinucleotide expansion within FMR1 gene and has X-linked dominant inheritance with variable penetrance. Girls are usually less affected. Craniofacial features include a long thin face, prominent ears and forehead, facial asymmetry, large head size, prominent jaw with dental overcrowding and high arched palate. There may be hyperextensible finger joints, single palmar crease and club feet. Pectus excavatum, scoliosis and macroorchidism may a feature in postpubertal boys. In this video I have discussed the genetic cause, and developmental disabilities and clinical features of Fragile X Syndrome.
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