Genetic Disorders Forum
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birth defect-otocephaly/agnathia

at 33 weeks I had CS delivery ,+ polyhydramnios ,had a  baby girl last july and lost her after 2 weeks .I had 4 ultrasounds in a level 2 maternal fetal clinic unfortunately the defect was not seen by the MDs.Also  had amniocentesis.She's our 3rd child.My other 2 kids are perfectly healthy.She was diagnosed with a very rare disorder of agnathia.We don't have family history of birth defect.Doctors had recommended for me & my sisters to have genetic counseling prior to pregnancies .But my gyne said my risk for having another baby with birth defect is as the same as other moms.Considering the extreme rarity of this ds. can a geneticist referral would help us ? Are there any research that can give us some risk factors r/t agnathia ?or any new test available in US for this ds?Thank you -
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264002 tn?1193282555
I am so very sorry for the loss of your baby girl.  I hope that this information is helpful to you.

As you have learned, Agnathia, also called otocephaly, is a rare syndrome characterized by microstomia (small mouth), aglossia (absence of the tongue), agnathia (absence of the lower jaw), and ear abnormalities.  The estimated prevalence is 1 in 70,000.  Most babies who have this condition do not survive.  Polyhydramnios is frequently found with agnathia.  Both genetic and environmental factors have an impact on this condition.   Most reported cases have been sporadic, but a couple of familial cases have been reported.  I am not aware of any clinical trials for this condition or any genetic testing.  The diagnosis can sometimes be made on ultrasound but can be difficult.    

It may help to meet with a genetic counselor to who will take a detailed a family history, discuss the diagnosis and the impact on future pregnancies.  You can locate a genetic counselor near you using the National Society of Genetic Counselor’s website.  More information about agnathia is available from The Genetic and Rare Diseases Information Center at 888-205-2311.  
Avatar universal
A related discussion, i want detailed info on agnathia was started.
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