Branchio-otic syndrome

General Information (adopted from Orphanet):

Synonyms, Signs:
Number of Symptoms 21
OrphanetNr: 52429
OMIM Id: 120502
602588
608389
ICD-10: Q87.0
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

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

Disease classification (adopted from Orphanet):

Parent Diseases: Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual deficit
 -Rare genetic disease
Multiple congenital anomalies/dysmorphic syndrome without intellectual deficit
 -Rare developmental defect during embryogenesis
Syndromic genetic deafness
 -Rare developmental defect during embryogenesis
 -Rare genetic disease
 -Rare otorhinolaryngologic disease

Symptom Information: Sort by abundance 

1
(HPO:0011331) Hemifacial atrophy Occasional [Orphanet] 79 / 7739
2
(HPO:0000277) Abnormality of the mandible Occasional [Orphanet] 394 / 7739
3
(HPO:0002710) Commissural lip pit 5 / 7739
4
(HPO:0000174) Abnormality of the palate Occasional [Orphanet] 298 / 7739
5
(HPO:0010628) Facial palsy Occasional [Orphanet] 146 / 7739
6
(HPO:0009795) Branchial fistula Very frequent [Orphanet] 4 / 7739
7
(HPO:0009796) Branchial cyst Very frequent [Orphanet] 32 / 7739
8
(HPO:0100267) Lip pit Occasional [Orphanet] 9 / 7739
9
(HPO:0000632) Lacrimation abnormality Occasional [Orphanet] 42 / 7739
10
(HPO:0000365) Hearing impairment Very frequent [Orphanet] 539 / 7739
11
(HPO:0000356) Abnormality of the outer ear Frequent [Orphanet] 85 / 7739
12
(HPO:0000372) Abnormality of the auditory canal Frequent [Orphanet] 49 / 7739
13
(HPO:0000405) Conductive hearing impairment Frequent [Orphanet] 164 / 7739
14
(HPO:0000384) Preauricular skin tag Occasional [Orphanet] 62 / 7739
15
(HPO:0004452) Abnormality of the middle ear ossicles Frequent [Orphanet] 26 / 7739
16
(HPO:0011390) Morphological abnormality of the inner ear Frequent [Orphanet] 21 / 7739
17
(HPO:0000407) Sensorineural hearing impairment Frequent [Orphanet] 524 / 7739
18
(HPO:0004467) Preauricular pit 39 / 7739
19
(HPO:0000377) Abnormality of the pinna 111 / 7739
20
(HPO:0200040) Epidermoid cyst Very frequent [Orphanet] 35 / 7739
21
(HPO:0000006) Autosomal dominant inheritance 2518 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: