BRANCHIOOTORENAL SYNDROME 1

General Information (adopted from Orphanet):

Synonyms, Signs: BRANCHIOOTORENAL DYSPLASIA
MELNICK-FRASER SYNDROME
BOR1
Number of Symptoms 34
OrphanetNr:
OMIM Id: 113650
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal dominant inheritance
Heterogeneous
[Omim]
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
(HPO:0004712) Renal malrotation 6 / 7739
2
(HPO:0000113) Polycystic kidney dysplasia 75 / 7739
3
(HPO:0000077) Abnormality of the kidney 73 / 7739
4
(HPO:0004742) Abnormality of the renal collecting system 4 / 7739
5
(HPO:0000076) Vesicoureteral reflux 94 / 7739
6
(HPO:0010628) Facial palsy 146 / 7739
7
(HPO:0011094) Overbite 5 / 7739
8
(HPO:0000175) Cleft palate 349 / 7739
9
(HPO:0000218) High palate 356 / 7739
10
(HPO:0000193) Bifid uvula 66 / 7739
11
(HPO:0100274) Gustatory lacrimation 2 / 7739
12
(HPO:0008513) Bilateral conductive hearing impairment 11 / 7739
13
(HPO:0000356) Abnormality of the outer ear 85 / 7739
14
(HPO:0000410) Mixed hearing impairment 22 / 7739
15
(HPO:0008625) Severe sensorineural hearing impairment 150 / 7739
16
(HPO:0004458) Dilatated internal auditory canal 4 / 7739
17
(HPO:0000405) Conductive hearing impairment 164 / 7739
18
(HPO:0008551) Microtia 98 / 7739
19
(HPO:0000407) Sensorineural hearing impairment 524 / 7739
20
(HPO:0000378) Cupped ear 34 / 7739
21
(HPO:0004467) Preauricular pit 39 / 7739
22
(HPO:0008586) Hypoplasia of the cochlea 4 / 7739
23
(HPO:0008591) Congenital conductive hearing impairment 8 / 7739
24
(HPO:0008554) Cochlear malformation 5 / 7739
25
(HPO:0008527) Congenital sensorineural hearing impairment 165 / 7739
26
(HPO:0000376) Incomplete partition of the cochlea type II 5 / 7739
27
(HPO:0000365) Hearing impairment 539 / 7739
28
(OMIM) Renal dysplasia/aplasia 1 / 7739
29
(OMIM) Lacrimal duct aplasia or stenosis (25% of patients) 1 / 7739
30
(OMIM) Stapes fixation 6 / 7739
31
(OMIM) Unconnected or fused stapes and incus 2 / 7739
32
(OMIM) Narrow external ear canals (1 patient) 3 / 7739
33
(OMIM) Branchial cleft fistulas or cysts, usually bilateral 2 / 7739
34
(OMIM) Long narrow face 11 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Branchiootorenal syndrome is an autosomal dominant disorder characterized by sensorineural, conductive, or mixed hearing loss, structural defects of the outer, middle, and inner ear, branchial fistulas or cysts, and renal abnormalities ranging from mild hypoplasia to complete absence. ...
Clinical Description OMIM Melnick et al. (1975, 1976) described a family in which the father and 3 of 6 living children (a son and 2 daughters) had mixed hearing loss associated with a Mondini-type cochlear malformation (hypoplasia of cochlear apex shown ...
Molecular genetics OMIM In patients with the BOR syndrome, Abdelhak et al. (1997) identified a large deletion and 7 different mutations in the EYA1 gene (see, e.g., 601653.0001; 601653.0002).

Rickard et al. (2000) studied 32 individuals with BOR syndrome ...

Population genetics OMIM Fraser et al. (1980) suggested that the frequency of the BOR syndrome may be higher than generally realized. Among 421 white children in Montreal schools for the deaf, 19 (4.5%) of 421 deaf children had preauricular pits, compared ...