Hydrolethalus syndrome: What Patients Should Know
By Dr. Thomas Bell, MD · · Genetic Medicine
Our Genetic Medicine team put together this overview of hydrolethalus syndrome for patients and families.
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.