1 | What is acrocephalosyndactyly?
Answer: Acrocephalosyndactyly is a rare genetic disorder characterized by abnormal skull shape and abnormal fusion of the fingers and toes.
2 | What are the symptoms of acrocephalosyndactyly?
Answer: Common symptoms of acrocephalosyndactyly include an unusually large head, wide-set eyes, a short nose, cleft palate, and webbed fingers and toes.
3 | How is acrocephalosyndactyly diagnosed?
Answer: Acrocephalosyndactyly is typically diagnosed through a physical examination and genetic testing.
4 | What is the treatment for acrocephalosyndactyly?
Answer: Treatment for acrocephalosyndactyly may include surgery to correct skull shape and separate the webbed fingers and toes, physical therapy, and other supportive therapies.
5 | Are there any long-term complications associated with acrocephalosyndactyly?
Answer: Yes, possible long-term complications associated with acrocephalosyndactyly can include developmental delays, intellectual disabilities, hearing loss, vision problems, and respiratory issues.
6 | Is acrocephalosyndactyly hereditary?
Answer: Yes, acrocephalosyndactyly is an inherited disorder, caused by mutations in either the FGFR2 or FGFR3 genes.
7 | What is the chance of having a child with acrocephalosyndactyly?
Answer: The chance of having a child with acrocephalosyndactyly depends on the type of genetic mutation present. If one parent has a mutation in the FGFR2 gene, the chance of having a child with acrocephalosyndactyly is 50 percent.
8 | Is acrocephalosyndactyly a life-threatening condition?
Answer: No, acrocephalosyndactyly is not a life-threatening condition, though it can cause physical and developmental problems.
9 | Are there any support groups for people with acrocephalosyndactyly?
Answer: Yes, there are several online support groups and resources available for people with acrocephalosyndactyly and their families.
10 | Are there any clinical trials for acrocephalosyndactyly?
Answer: Yes, there are currently several clinical trials underway for acrocephalosyndactyly, focusing on methods of early diagnosis and new treatments.