Muggenthaler-Chowdhury-Chioza syndrome

Term ID

DOID:0070805

Synonyms

• MCCS

Definition

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. (2)

References

• ICD10CM:Q87.8
• MIM:621063
• ORDO:508476
• SNOMEDCT_US_2026_03_01:1187039001
• UMLS_CUI:C5568767
• UMLS_CUI:C5975586

Ontology

Human Disease   ( DOID:0070805 )