| H00886 | |
| H number | H00886 |
| Name | Donnai-Barrow syndrome; Faciooculoacousticorenal syndrome |
| Description | 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 |
| Network | nt06501(H00886) HH signaling |
| Gene | LRP2 [HSA:4036] [KO:K06233] |
| Pathogen | - |
| Env factor | - |
| Carcinogen | - |
| Drug | - |
| Comment | - |
| Other DBs | ICD-11: LD2F.1Y ICD-10: Q87.8 MeSH: C536390 OMIM: 222448 |
| Reference | PMID:20301732 AUTHORS Kantarci S, Donnai D, Noonan KM, Pober BR TITLE Donnai-Barrow Syndrome JOURNAL GeneReviews (1993) PMID:19089858 AUTHORS Pober BR, Longoni M, Noonan KM TITLE A review of Donnai-Barrow and facio-oculo-acoustico-renal (DB/FOAR) syndrome: clinical features and differential diagnosis. JOURNAL Birth Defects Res A Clin Mol Teratol 85:76-81 (2009) DOI:10.1002/bdra.20534 PMID:18553518 AUTHORS Kantarci S, Ragge NK, Thomas NS, Robinson DO, Noonan KM, Russell MK, Donnai D, Raymond FL, Walsh CA, Donahoe PK, Pober BR TITLE Donnai-Barrow syndrome (DBS/FOAR) in a child with a homozygous LRP2 mutation due to complete chromosome 2 paternal isodisomy. JOURNAL Am J Med Genet A 146A:1842-7 (2008) DOI:10.1002/ajmg.a.32381 |