What causes Greig syndrome?
What causes Greig syndrome?
Different genetic changes involving the GLI3 gene can cause Greig cephalopolysyndactyly syndrome. In some cases, the condition results from a chromosomal abnormality —such as a large deletion or rearrangement of genetic material—in the region of chromosome 7 that contains the GLI3 gene.
What gene mutation causes polydactyly?
More than 40 mutations in the GLI3 gene have been found to cause Pallister-Hall syndrome, a rare condition whose major features include polydactyly, an abnormal growth in the brain called a hypothalamic hamartoma, and a malformation of the airway called a bifid epiglottis.
What race is polydactyly most common in?
Polydactyly occurs in 1 in 1,000 births in the overall population, but occurs more often in African Americans with 1 in 150 births. It’s also more common in boys than girls.
Who is most affected by polydactyly?
This condition is one of the most common congenital hand defects, affecting about one out of every 500 to 1,000 babies. Usually, only one of a child’s hands is affected. African-American children are more likely to have an extra little finger, while Asians and Caucasians are more likely to have an extra thumb.
What is Apert syndrome?
Apert syndrome is a rare genetic condition that is apparent at birth. People with Apert syndrome can have distinctive malformations of the skull, face, hands, and feet. Apert syndrome is characterized by craniosynostosis, a condition in which the fibrous joints (sutures) between bones of the skull close prematurely.
What body systems are affected by Apert syndrome?
Apert syndrome is a condition where the bones of the skull fuse together too early, which affects the shape of the head and face. People born with Apert syndrome may experience problems with their vision and teeth because of the abnormal shape of the facial and skull bones.
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