Branchiootorenal dysplasia

BOR syndrome is an autosomal dominant disorder that variably involves developmental defects of ear, brachial arches, and kidney. The disease is caused by mutations in two functionally related genes EYA1 and SIX5.

Epidemiology

Incidence of BOR syndrome is estimates 1 in 40,000, which includes both forms wheras BOR1 holds the major share.[Error: Macro 'ref' doesn't exist]

Clinical Findings

Clinical presentation of BOR syndrome is variable. Hearing loss may be sensorineural, conductive, or mixed and is caused by outer, middle, or inner ear anomaly. Branchial fistulas or cysts can be present. Distubances in lacrimation may occur as a result of aberrant innervation. Renal dysplasias vary from normal to severe functional disturbances the manifest antenatally already by oligohydramnios.

Systematic

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
	BMP7
	BNAR syndrome
	Brain malformations with urinary tract defects
	Branchio-oculo-facial syndrome
	Branchiootic syndrome
	Branchiootorenal dysplasia
		Branchiootorenal dysplasia 1
			EYA1
		Branchiootorenal dysplasia 2
			SIX5
		SIX2
		Townes-Brocks branchiootorenal-like syndrome
			SALL1
	CHARGE syndrome
	CHD1L
	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