ODCs

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2 OMIM references -
3 associated genes
17 signs/symptoms

COMMON GENES: 1
PROTEIN INTERACTIONS: 1
COMMON SIGNS: 4

2 OMIM references -
2 associated genes
22 signs/symptoms

BOR syndrome

Otofaciocervical syndrome


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	SIX1	(1)	EYA1

Citations in the biomedical literature:

BOR syndrome		Otofaciocervical syndrome
	Synonym(s): - Branchiootorenal syndrome		Synonym(s): - Fara-Chlupackova syndrome - OFC syndrome

	Classification (Orphanet): - Rare developmental defect during embryogenesis - Rare genetic disease - Rare maxillo-facial surgical disease - Rare otorhinolaryngologic disease - Rare renal disease		Classification (Orphanet): - Rare developmental defect during embryogenesis - Rare genetic disease

	Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities -		Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities -

	Epidemiological data: Class of prevalence: unknown Average age onset: variable Average age of death: normal Type of inheritance: autosomal dominant		Epidemiological data: (no data available)

	External references: 2 OMIM references - 1 MeSH reference: D019280		External references: 2 OMIM references - No MeSH references


COMMON SIGNS	- Agenesis / hypoplasia / aplasia of kidneys - Autosomal dominant inheritance - Branchial / posterior auricular / preauricular / cheek cysts / fistulae - External auditory canal atresia / stenosis / agenesis

BOR syndrome		Otofaciocervical syndrome
	Very frequent - Hearing loss / hypoacusia / deafness Frequent - External ear anomalies - Preauricular / branchial tags / appendages - Structural anomalies of inner ear / cochlea / vestible / semicircular canals - Structural anomalies of middle ear / ossicles / tympanic cavity Occasional - Cleft palate without cleft lip / submucosal cleft palate / bifid uvula - Defect / anomaly of lacrimal system - Facial palsy - Megaureter / hydronephrosis / pyeloureteral junction syndrome - Micrognathia / retrognathia / micrognathism / retrognathism - Multicystic kidney / renal dysplasia - Renal failure - Vesicorenal / vesicoureteral reflux		Very frequent - Abnormal dermatoglyphics - Anteverted nares / nostrils - Broad cheeks / cherub-like / cherubin face - Clavicle absent / abnormal - Conductive deafness / hearing loss - Depressed nasal bridge - High vaulted / narrow palate - Hypereflexia - Hypertonia / spasticity / rigidity / stiffness - Intellectual deficit / mental / psychomotor retardation / learning disability - Long / large ear - Prominent / bat ears - Scapula structural / position anomaly / congenital elevation / Sprengel anomaly - Short stature / dwarfism / nanism - Speech troubles / aphasia / dysphasia / echolalia / mutism / logorrhea / dysprosodia Frequent - Antihelix anomaly - Delayed bone age Occasional - Facial structural asymmetry / facial hemiatrophy / facial hemihypertrophy