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Wednesday, May 22, 2013
Inherited Disorders and Birth Defects
Postaxial polydactyly runs in my family. My ex-husband`s hands lack upper joints, but has creases where joints should have developed. I have been told that a relative has two ankle joints in a single foot. My grand-daughter was born with amniotic band syndrome with indentations across her nose and vagina. Are these "defects" related? Thank You.
I cannot tell you what the specific diagnosis is in your ex-husband's family. There is a genetic syndrome called multiple synostosis syndrome that has the type of findings you mention for your ex-husband's family history. It can be inherited the same way postaxial polydactyly runs in families - called autosomal dominant inheritance. So it could be possible that someone in the family has both problems.
While I am not aware of a connection between multiple synostosis syndrome or polydactyly and amniotic band syndrome, this would be an excellent question to ask a geneticist or genetic counselor. You and your family can locate a genetics center near you at the National Society of Genetic Counselors Resource Center website below.
Anne Matthews, RN, PhD
Associate Professor of Genetics
School of Medicine
Case Western Reserve University