Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

Branchiootic syndrome

The existance odf a separate entity Branchiootic syndrome (BOS) separate from Branchiootorenal syndrome (BOR) is still disputed because type 1 of both disorders is caused by the same gene. It seems however that other types deviate. Three types of BOS are known so far. Type 2 is not yet well characterized and therefore not eligible for diagnostic purposes.


Branchiootic syndrome deafness is of a mixed (conductive and sensorineural) type because of malformations (atresia to stenosis) of the external auditory canal and nderdeveloped cochlea and semicircular canals, respectively.


Congenital abnormalities of the kidney and urinary tract
Acro-renal-ocular syndrome
Aplasia of lacrimal and salivary glands
Autosomal dominant Robinow syndrome 1
Autosomal recessive Robinow syndrome
BNAR syndrome
Brain malformations with urinary tract defects
Branchio-oculo-facial syndrome
Branchiootic syndrome
Branchiootic syndrome 1
Branchiootic syndrome 3
Branchiootorenal dysplasia
CHARGE syndrome
Congenital anomalies of kidney and urinary tract 1
Congenital anomalies of kidney and urinary tract 2
Congenital hypogonadotropic hypogonadism with anosmia 1
Congenital hypogonadotropic hypogonadism without anosmia 5
Denys-Drash syndrome
Fraser syndrome
Frasier syndrome
Goldberg-Shprintzen syndrome
IVIC syndrome
Ivemark syndrome
Kabuki syndrome
Lacrimoauriculodentodigital syndrome
Mowat-Wilson syndrome
Papillorenal syndrome
Renal cysts and diabetes (RCAD)
Renal dysplasia with hypopituitarism and diabetes
Renal hypodysplasia/aplasia
Renal tubular dysgenesis
SERKAL syndrome
Simpson-Golabi-Behmel syndrome
Smith-Lemli-Opitz syndrome
Somatic nephroblastoma
Susceptibility to cystic renal dysplasia
Syndromic microphthalmia 6
Urofacial syndrome
Vesicoureteral reflux
WAGR syndrome



Hoskins BE et al. (2007) Transcription factor SIX5 is mutated in patients with branchio-oto-renal syndrome.


Ruf RG et al. (2003) A gene locus for branchio-otic syndrome maps to chromosome 14q21.3-q24.3.


Ruf RG et al. (2004) SIX1 mutations cause branchio-oto-renal syndrome by disruption of EYA1-SIX1-DNA complexes.


Sanggaard KM et al. (2007) Branchio-oto-renal syndrome: detection of EYA1 and SIX1 mutations in five out of six Danish families by combining linkage, MLPA and sequencing analyses.


None (1969) Familial hearing loss associated with branchial fistulas.


Vincent C et al. () BOR and BO syndromes are allelic defects of EYA1.


Azuma N et al. (2000) Mutations of a human homologue of the Drosophila eyes absent gene (EYA1) detected in patients with congenital cataracts and ocular anterior segment anomalies.


Kumar S et al. (2000) Genomewide search and genetic localization of a second gene associated with autosomal dominant branchio-oto-renal syndrome: clinical and genetic implications.


Fitch N et al. () The temporal bone in the preauricular pit, cervical fistula, hearing loss syndrome.


FOURMAN P et al. (1955) Hereditary deafness in family with ear-pits (fistula auris congenita).


None (1962) Hereditary malformations of the ear in three generations. Marginal pits, pre-auricular appendages, malformations of the auricle and conductive deafness.


Spruijt L et al. (2006) Identification of a novel EYA1 mutation presenting in a newborn with laryngomalacia, glossoptosis, retrognathia, and pectus excavatum.


Marres HA et al. (1991) Congenital conductive or mixed deafness, preauricular sinus, external ear anomaly, and commissural lip pits: an autosomal dominant inherited syndrome.


Haan EA et al. (1989) Tricho-rhino-phalangeal and branchio-oto syndromes in a family with an inherited rearrangement of chromosome 8q.


None (1966) Pits of the lip commissures in Caucasoid males.


Melnick M et al. (1978) Branchio-oto-renal dysplasia and branchio-oto dysplasia: two distinct autosomal dominant disorders.


Cremers CW et al. (1981) Otological aspects of the earpit-deafness syndrome.


Kalatzis V et al. (1996) Characterization of a translocation-associated deletion defines the candidate region for the gene responsible for branchio-oto-renal syndrome.


Gu JZ et al. (1996) Detection of a megabase deletion in a patient with branchio-oto-renal syndrome (BOR) and tricho-rhino-phalangeal syndrome (TRPS): implications for mapping and cloning the BOR gene.


Kumar S et al. (1998) Autosomal-dominant branchio-otic (BO) syndrome is not allelic to the branchio-oto-renal (BOR) gene at 8q13.


Stratakis CA et al. (1998) Description of a large kindred with autosomal dominant inheritance of branchial arch anomalies, hearing loss, and ear pits, and exclusion of the branchio-oto-renal (BOR) syndrome gene locus (chromosome 8q13.3).


Orphanet article

Orphanet ID 52429 [^]
Update: May 9, 2019