Branchiootic syndrome is a rare, genetic multiple congenital anomalies syndrome characterized by second branchial arch anomalies (branchial cysts and fistulae), malformations of the outer, middle and inner ear associated with sensorineural, mixed or conductive hearing loss, and the absence of renal abnormalities. Typical ear findings consist of malformed auricles (e.g. lop or cupped ears), preauricular pits and/or tags, and middle and/or inner ear dysplasias (inculding cochlear, vestibular and semicircular channel hypoplasia, malformation of the ossicles and of middle ear space).
Matched Phenotype
Gene
Mutation
MeSH
Rank (Similarity) |
PMID (PMCID) |
1 (24.9%) |
22901925
|
Branchiootic syndrome--a clinical case report and review of the literature.
Amer I, Falzon A, Choudhury N, Ghufoor K.
J Pediatr Surg. 2012;47(8):1604-6.
|
Branchial fistula
|
|
|
Branchial Region
Branchio-Oto-Renal Syndrome
Branchioma
Child
Craniofacial Abnormalities
Cutaneous Fistula
Females
Head and Neck Neoplasms
Homo sapiens
Incidence
Magnetic Resonance Imaging
Pharyngeal Diseases
Phenotype
Tonsillectomy
|
2 (4.0%) |
18666230
|
Branchiootorenal syndrome and oculoauriculovertebral spectrum features associated with duplication of SIX1, SIX6, and OTX2 resulting from a complex chromosomal rearrangement.
Ou Z, Martin DM, Bedoyan JK, Cooper ML, Chinault AC, Stankiewicz P, Cheung SW.
Am J Med Genet A. 2008;146A(19):2480-9.
|
Short stature
|
OTX2
PRPF31
SIX1
SIX6
|
|
Branchio-Oto-Renal Syndrome
Child, Preschool
Chromosomes, Human, Pair 13
Chromosomes, Human, Pair 14
Gene Duplication
Goldenhar Syndrome
Homeodomain Proteins
Homo sapiens
Male
Molecular Diagnostic Techniques
Otx Transcription Factors
Trans-Activators
Trisomy
|
Phenotype(s) retrieved from Orphanet
Total: 16
HPO ID |
Term |
Frequency |
HP:0000365 |
Hearing impairment |
Very frequent (99-80%) |
HP:0004467 |
Preauricular pit |
Very frequent (99-80%) |
HP:0000356 |
Abnormality of the outer ear |
Frequent (79-30%) |
HP:0000359 |
Abnormality of the inner ear |
Frequent (79-30%) |
HP:0000405 |
Conductive hearing impairment |
Frequent (79-30%) |
HP:0000407 |
Sensorineural hearing impairment |
Frequent (79-30%) |
HP:0000413 |
Atresia of the external auditory canal |
Frequent (79-30%) |
HP:0008609 |
Morphological abnormality of the middle ear |
Frequent (79-30%) |
HP:0009795 |
Branchial fistula |
Frequent (79-30%) |
HP:0000175 |
Cleft palate |
Occasional (29-5%) |
HP:0000324 |
Facial asymmetry |
Occasional (29-5%) |
HP:0000347 |
Micrognathia |
Occasional (29-5%) |
HP:0000384 |
Preauricular skin tag |
Occasional (29-5%) |
HP:0000614 |
Abnormal nasolacrimal system morphology |
Occasional (29-5%) |
HP:0010628 |
Facial palsy |
Occasional (29-5%) |
HP:0100267 |
Lip pit |
Occasional (29-5%) |
Phenotype(s) retrieved from case reports
Total: 0
HPO ID |
Term |
# of case reports |
Causative gene(s) retrieved from Orphanet
Total: 2
Gene Symbol |
Gene Name |
Entrez Gene ID |
EYA1 |
EYA transcriptional coactivator and phosphatase 1 |
2138 |
SIX1 |
SIX homeobox 1 |
6495 |