When to See a Specialist About Hydrolethalus syndrome
By Dr. Javier Flores, MD · · Genetic Medicine
Patients often ask us about hydrolethalus syndrome. Here is what our Genetic Medicine clinicians want you to know.
About this topic
Topic: hydrolethalus syndrome. A syndrome characterized by multiple fetal developmental defects including polydactyly and central nervous system malformations that results from a single amino acid mutation of D211G of the HYLS1 gene which plays a central role in cilia formation.
Related care
- fluid restriction recommendation
- tocolytic agent therapy
- cellular therapy
- potassium supplementation
- in vitro DNA repair study
This article is for general information and does not replace advice from your clinician.