Donnai-Barrow syndrome (DBS) is a rare autosomal recessive disorder of multiple anomalies resulting from mutations in the LRP2 gene. It is characterized by agenesis of the corpus callosum, typical craniofacial features (ocular hypertelorism, enlarged fontanelle), ophthalmological abnormalities (high myopia, iris stromal hypoplasia), severe sensorineural deafness, congenital diaphragmatic hernia, and proteinuria. The diagnosis is confirmed by detection of mutations in LRP2.
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
H00886 Donnai-Barrow syndrome
Pathway-based classification of diseases [BR:br08402]
Signal transduction
nt06501 HH signaling
H00886 Donnai-Barrow syndrome
