What are polydactyly syndromes?
What are polydactyly syndromes?
Polydactyly is associated with Down syndrome, trisomy 13, Ellis-Van Creveld syndrome, Apert syndrome, and tibial hemimelia. Two types of polydactyly exist: type A, which exhibits a well-formed articulated digit, or type B, characterized by a rudimentary digit.
What treatments are available for polydactyly?
Treatment. Polydactyly is usually treated in early childhood with the removal of the extra finger or toe. If the extra digit is not attached by any bones, a vascular clip may be used to remove it. The vascular clip attaches to the extra digit and cuts off blood flow to it.
What genetic disorder causes polydactyly?
Mutations in either EVC or EVC2 cause Ellis–van Creveld syndrome (EVC), a condition characterized by decreased Hh signaling and polydactyly as one of the phenotypes.
What is acrocephalosyndactyly syndrome?
Apert Syndrome (Acrocephalosyndactyly) Apert syndrome is autosomal dominant inherited and is characterized by craniosynostosis and fusion of the digits (syndactyly). Patients present with synostosis of the feet, hands, carpi, tarsi, cervical vertebrae, and skull.
What causes Ellis Van Creveld syndrome?
Causes. Ellis-Van Creveld syndrome is associated with abnormalities (mutations) in two genes on the number 4 chromosome called EVC and EVC2. These gene mutations result in the production of abnormally small EVC and EVC2 proteins.
When do you remove extra fingers?
If the extra finger is more fully developed, your child may benefit from a surgery to remove the extra finger. This is typically done when a child is between 1 and 2 years old. This surgery can range from a simple procedure to remove the extra little finger to more complex procedures (for thumbs and central fingers).
What is the difference between Apert and Crouzon syndrome?
Crouzon syndrome and Apert syndrome are both craniosynostosis syndromes caused by a mutated FGFR2 gene. Apert syndrome is similar but more severe. With Apert syndrome, your baby has the craniofacial characteristics of Crouzon syndrome. In addition, they may have fused or webbed fingers and toes.