CHOC Children's Blog

CHOC Children's Blog


Genetics of Clefting

July 07, 2015

In this CHOC Radio segment, Dr. Jason Toranto, pediatric plastic and craniofacial surgeon, and Dr. Neda Zadeh, medical geneticist, discuss genetics and clefting (clip lip and/or palate).  Both physicians are part of CHOC’s Cleft & Craniofacial Program.

Due to advances in ultrasound technology, fetuses can sometimes be diagnosed, at around 18-20 weeks gestation, with cleft lips and/or palates, prompting questions and concerns from expectant parents.  It’s natural to inquire about the cause.

Dr. Zadeh reassures parents that there’s nothing they did to cause the clefting, which occurs in one out of every 6,800 infants.  It’s important to determine if the cleft lip or palate is the result of a syndromic condition, so she suggests getting a referral to a geneticist as soon as the clefting is detected.

The majority of clefting is unrelated to a genetic condition.  However, there are approximately 300 genetic syndromes where a cleft lip or palate is a feature.  Getting a family history, including medical history, is typically the first step in the meeting with a geneticist.

In addition to meeting with a geneticist, families who are referred to CHOC’s cleft and craniofacial program have access to a multidisciplinary team dedicated to guiding parents every step of the way.

Find the direct link to the audio file here.

CHOC Radio theme music by Pat Jacobs.