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Apert syndrome
01
ایپرٹ سنڈروم, ایپرٹ سنڈروم (جینیاتی بیماری)
a genetic disorder with craniofacial abnormalities, fused fingers or toes, and skeletal issues due to FGFR2 gene mutations
What is "Apert syndrome"?
Apert syndrome is a rare genetic disorder that affects the development of the skull, face, hands, and feet. It is typically characterized by abnormalities such as fused skull bones, a high-arched palate, widely spaced eyes, and fused fingers and toes.. Individuals with Apert syndrome may also have intellectual disability and hearing loss. The condition is caused by changes in the FGFR2 gene, which plays a role in the development of bones and tissues. Treatment for Apert syndrome often involves surgery to correct head, facial, and limb abnormalities, as well as actions to address other medical and developmental issues.
Apert syndrome
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