loading...| Preferred Name |
Donnai-Barrow syndrome |
| ID |
http://www.orpha.net/ORDO/Orphanet_2143 |
| alternative_term |
Syndrome of ocular and facial anomalies, telecanthus and deafness DBS/FOAR syndrome Facio-oculo-acoustico-renal syndrome Diaphragmatic hernia-exomphalos-hypertelorism syndrome Holmes-Schepens syndrome Syndrome of ocular and facial anomalies, telecanthus and hearing loss Diaphragmatic hernia-hypertelorism-myopia-hearing loss syndrome Diaphragmatic hernia-hypertelorism-myopia-deafness syndrome FOAR syndrome |
| definition |
A multiple congenital malformation syndrome characterized by typical facial dysmorphism, myopia and other ocular findings, hearing loss, agenesis of the corpus callosum, low-molecular-weight proteinuria, and variable intellectual disability. Congenital diaphragmatic hernia (CDH) and/or omphalocele are common. |
| definition_citation |
Orphanet |
| expertlink |
https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2143 |
| has_age_of_onset |
Antenatal Neonatal |
| has_inheritance |
Autosomal recessive |
| hasDbXref |
MeSH:C536390 UMLS:C1857277 OMIM:222448 ICD-10:Q87.8 ICD-11:LD2F.1Y |
| label |
Donnai-Barrow syndrome |
| notation |
ORPHA:2143 |
| part_of |
http://www.orpha.net/ORDO/Orphanet_611327 http://www.orpha.net/ORDO/Orphanet_102283 |
| prefixIRI |
ORDO:Orphanet_2143 |
| prefLabel |
Donnai-Barrow syndrome |
| present_in |
Worldwide AND has_cases/families_value : 50.0 (Case) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 |
| treeView |
http://www.orpha.net/ORDO/Orphanet_611327 http://www.orpha.net/ORDO/Orphanet_102283 |
| subClassOf |