DISEASE: Craniofacial anomalies and anterior segment dysgenesis syndrome
Entry
H03066 Disease
Name
Craniofacial anomalies and anterior segment dysgenesis syndrome
Description
Craniofacial anomalies and anterior segment dysgenesis syndrome (CAASDS) is a rare syndrome characterized by craniofacial anomalies, empty sella, corneal endothelial changes, and abnormal retinal and auditory bipolar cells. It has been reported that mutations in VSX1 cause this syndrome. VSX1, also known as the retinal inner nuclear layer homeobox gene (RINX), is a member of a paired-like subfamily of homeodomain transcription factors.
Category
Congenital malformation
Brite
Human diseases in ICD-11 classification [BR:br08403]
20 Developmental anomalies
Multiple developmental anomalies or syndromes
LD2F Syndromes with multiple structural anomalies, without predominant body system involvement
H03066 Craniofacial anomalies and anterior segment dysgenesis syndrome
