Branchiootic syndrome

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).



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Narrow down the case reports



Total: 2 (papers)

  


(per page)
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