Muggenthaler-Chowdhury-Chioza syndrome: What Patients Should Know

By Dr. Julia Hill, MD · 2022-11-03 · Genetic Medicine

Patients often ask us about Muggenthaler-Chowdhury-Chioza syndrome. Here is what our Genetic Medicine clinicians want you to know.

About this topic

Topic: Muggenthaler-Chowdhury-Chioza syndrome. A syndrome characterized by craniofacial dysmorphism, most consistently hypertelorism and a broad flat nose, myopia, and variable additional features including congenital cardiac anomalies, orofacial clefting, and hearing loss that has_material_basis_in homozygous or compound heterozygous mutation in the HYAL2 gene on chromosome 3p21.

Mentioned in this article

• GABA agonist agent therapy
• neutrophil morphology measurement

Related care

• antiatherogenic drug therapy
• biopsy of nasolacrimal duct

Always talk with your care team before making decisions about your health. This content is educational only.