Donnai-Barrow Syndrome malady
Genetic diseases, Rare diseases, Fetal diseases, Nephrological diseases, Ear diseases categories
Aliases & Descriptions for Donnai-Barrow Syndrome:
MalaCards categories: See all MalaCards categories (disease lists)
Global: Genetic diseases, Rare diseases, Fetal diseases
Anatomical: Nephrological diseases, Ear diseases
Developmental anomalies during embryogenesis
Characteristics (Orphanet epidemiological data):48
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Antenatal,Neonatal; Age of death: any age
OMIM:46 The faciooculoacousticorenal (FOAR) syndrome was first described as comprising facial anomalies, ocular anomalies,... (222448) more...
MalaCards based summary: Donnai-Barrow Syndrome, also known as dbs/foar syndrome, is related to obesity and tremor, and has symptoms including low-molecular-weight proteinuria, non-acidotic proximal tubulopathy and broad nasal tip. An important gene associated with Donnai-Barrow Syndrome is LRP2 (low density lipoprotein receptor-related protein 2). Affiliated tissues include eye, brain and heart.
Genetics Home Reference:21 Donnai-Barrow syndrome is an inherited disorder that affects many parts of the body. This disorder is characterized by unusual facial features, including prominent, wide-set eyes with outer corners that point downward; a short bulbous nose with a flat nasal bridge; ears that are rotated backward; and a widow's peak hairline.
NIH Rare Diseases:42 Donnai barrow syndrome is an inherited disorder that affects many parts of the body. people with this condition generally have characteristic facial features, severe sensorineural hearing loss, vision problems and an absent or underdeveloped corpus callosum (the tissue connecting the left and right halves of the brain). other features may include diaphragmatic hernia, omphalocele, and/or other abnormalities of the intestine or heart. affected people often have mild to moderate intellectual disability and developmental delay. donnai barrow syndrome is caused by changes (mutations) in the lrp2 gene and is inherited in an autosomal recessive manner. treatment of this condition is based on the signs and symptoms present in each person but may include hearing aids and/or cochlear implants for hearing loss, corrective lenses for vision problems and surgery for certain physical abnormalities. last updated: 11/5/2014
GeneReviews summary for donnai
Symptoms by clinical synopsis from OMIM:222448
Clinical features from OMIM:222448
Symptoms:48 (show all 29)
HPO human phenotypes related to Donnai-Barrow Syndrome:(show all 59)
MalaCards organs/tissues related to Donnai-Barrow Syndrome:31
Eye, Brain, Heart, Uterus
Articles related to Donnai-Barrow Syndrome:
UniProtKB/Swiss-Prot genetic disease variations for Donnai-Barrow Syndrome:63
Clinvar genetic disease variations for Donnai-Barrow Syndrome:5 (show all 14)
Search GEO for disease gene expression data for Donnai-Barrow Syndrome.
26ICD10 via Orphanet
34MESH via Orphanet
47OMIM via Orphanet
57SNOMED-CT via Orphanet
62UMLS via Orphanet