2-month-old with Asymmetric Crying Facies (ACF) and Hydronephrosis. Anyone with similar experiences or genetic testing (22q11.2)?
Hi everyone,
I’m looking for some advice, shared experiences, or just a bit of reassurance regarding my 2-month-old baby.
Recently, we noticed that when our baby cries, the lower lip on one side doesn't pull down, resulting in an asymmetrical facial expression. However, when the baby is resting or sleeping, the face is perfectly symmetrical, and both eyes close tightly without any issues when crying. Based on this, it seems to align perfectly with Asymmetric Crying Facies (ACF) caused by congenital missing/hypoplasia of the depressor anguli oris muscle, rather than a facial nerve palsy.
In addition to this, our baby was also diagnosed with Hydronephrosis on ultrasound and is currently on daily prophylactic antibiotics to prevent UTIs.
Because both the facial muscles and the kidneys originate from the mesoderm during embryonic development, I've been reading a lot about potential genetic links. My biggest concern right now is the possibility of 22q11.2 microdeletion syndrome (like Cayler cardiofacial syndrome) or other genetic anomalies since these two structural issues are presenting together.
We are planning to discuss genetic testing (like a chromosomal microarray) with our pediatrician soon, but as a parent, the waiting and the "what ifs" are extremely stressful.
My questions for this community:
Has anyone here had a child with both ACF and Hydronephrosis (or other kidney/urinary issues)?
If your child had ACF (isolated or with other anomalies), did you pursue genetic testing? What were the results?
For those whose kids have ACF, how are they doing now as they grow up?