Donnai-barrow syndrome

Preferred Label : Donnai-barrow syndrome;

Symbol : DBS;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Faciooculoacousticorenal syndrome; Dbs/foar syndrome; Diaphragmatic hernia, exomphalos, absent corpus callosum, hypertelorism, myopia, sensorineural deafness, and proteinuria; FOAR;

Description : The faciooculoacousticorenal (FOAR) syndrome was first described as comprising facial anomalies, ocular anomalies, sensorineural hearing loss, and proteinuria. Facial features include prominent brow, short nose, and hypertelorism, and ocular anomalies include myopia, iris hypoplasia, and/or retinal detachment (Regenbogen and Coscas, 1985). Donnai-Barrow syndrome (DBS) was first described as a distinct disorder characterized by diaphragmatic hernia, exomphalos, absent corpus callosum, myopia, and sensorineural deafness. The classic distinguishing features between the 2 disorders were presence of proteinuria and absence of diaphragmatic hernia and corpus callosum anomalies in FOAR (Donnai and Barrow, 1993). However, early reports noted that the 2 disorders shared many phenotypic features and may be identical (e.g., Devriendt et al., 1998). Although there is variability in the expression of some features (e.g., agenesis of the corpus callosum and proteinuria), the disorders are now considered to represent the same entity (Kantarci et al., 2007).;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the low density lipoprotein receptor-related protein 2 gene (LRP2, 600073.0001);

Laboratory abnormalities : Proteinuria; Urinary excretion of retinol-binding proteins (RBP) and vitamin D-binding proteins (DBP);

Prefixed ID : #222448;

Details

Origin ID

222448;

UMLS CUI

C1857277;

Automatic exact mappings (from CISMeF team)
- Holmes-Schepens syndrome [ICD-11 More detail]
Currated CISMeF NLP mapping
- Diaphragmatic hernia-exomphalos-hypertelorism syndrome (disorder) [SNOMED CT concept]
- Donnai Barrow syndrome [Disease (Nov.)]
- Donnai-Barrow syndrome [DO Concept]
- Donnai-Barrow syndrome [MeSH concept]
- Donnai-Barrow syndrome [MeSH Supplementary Concept]
- Donnai-Barrow syndrome [ORDO Disease]
DO Cross reference
- Donnai-Barrow syndrome [DO Concept]
Genes related to phenotype
- Low density lipoprotein receptor-related protein 2 [OMIM gene]
HPO term(s)
- Agenesis of corpus callosum [HPO term]
- Aplasia/Hypoplasia of the corpus callosum [HPO term]
- Autosomal recessive inheritance [HPO term]
- Bicornuate uterus [HPO term]
- Broad nasal tip [HPO term]
- Cataract [HPO term]
- Congenital diaphragmatic hernia [HPO term]
- Congenital onset [HPO term]
- Depressed nasal bridge [HPO term]
- Diaphragmatic eventration [HPO term]
- Downslanted palpebral fissures [HPO term]
- Flattened nasal bridge [HPO term]
- Global developmental delay [HPO term]
- Hearing impairment [HPO term]
- High myopia [HPO term]
- Hypertelorism [HPO term]
- Hypoplasia of the iris [HPO term]
- Infra-orbital crease [HPO term]
- Intestinal malrotation [HPO term]
- Iris coloboma [HPO term]
- Low-set ears [HPO term]
- Macrocephaly [HPO term]
- Malar flattening [HPO term]
- Midface retrusion [HPO term]
- Non-acidotic proximal tubulopathy [HPO term]
- Omphalocele [HPO term]
- Partial agenesis of the corpus callosum [HPO term]
- Posteriorly rotated ears [HPO term]
- Progressive visual loss [HPO term]
- Prominent eyes [HPO term]
- Proptosis [HPO term]
- Proteinuria [HPO term]
- Retinal detachment [HPO term]
- Retinal dystrophy [HPO term]
- Seizure [HPO term]
- Sensorineural hearing impairment [HPO term]
- Short nose [HPO term]
- Short sternum [HPO term]
- Umbilical hernia [HPO term]
- Underorbital skin creases [HPO term]
- Ventricular septal defect [HPO term]
- Wide anterior fontanel [HPO term]
ORDO concept(s)
- Donnai-Barrow syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Diaphragmatic hernia-exomphalos-hypertelorism syndrome (disorder) [SNOMED CT concept]
- Donnai Barrow syndrome [Disease (Nov.)]
- Donnai-Barrow syndrome [ORDO Disease]
- Donnai-Barrow syndrome [MeSH Supplementary Concept]
- Donnai-Barrow syndrome [MeSH concept]
- Donnai-Barrow syndrome [DO Concept]

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