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Branchio-oculo-facial syndrome
1 OMIM reference -
1 associated gene
37 signs/symptoms
PROTEIN INTERACTIONS: 1
COMMON SIGNS: 7
Monosomy 13q14
1 OMIM reference -
1 associated gene
31 signs/symptoms
Branchio-oculo-facial syndrome
Monosomy 13q14

TFAP2A
(UniProt - OMIM)
 RB1
(UniProt - OMIM)

INTERACTOME
ASSOCIATIONS
(click on a score value to see the evidence)
TFAP2A
(0.71)
RB1


Citations in the biomedical literature:


Branchio-oculo-facial syndrome
TFAP2A
Monosomy 13q14
RB1



Branchio-oculo-facial syndrome
Monosomy 13q14

Synonym(s):
- BOFS
Synonym(s):
- Del(13)(q14)
- Deletion 13q14 syndrome
Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare genetic disease
- Rare maxillo-facial surgical disease
- Rare otorhinolaryngologic disease
Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare eye disease
- Rare genetic disease
Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -
Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -
Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: neonatal/infancy
Average age of death: no data available
Type of inheritance: autosomal dominant
Epidemiological data:
(no data available)
External references:
1 OMIM reference -
No MeSH references
External references:
1 OMIM reference -
No MeSH references
COMMON
SIGNS 		- Broad nose / nasal bridge
- Cataract / lens opacification
- Coloboma of iris
- Intrauterine growth retardation
- Low set ears / posteriorly rotated ears
- Ptosis
- Short stature / dwarfism / nanism

Branchio-oculo-facial syndrome
Monosomy 13q14

Very frequent
- Autosomal dominant inheritance
- Branchial / posterior auricular / preauricular / cheek cysts / fistulae
- Capillary hemangioma / nevus / naevus flammeus / port-wine stain
- Conductive deafness / hearing loss
- Dermoid sinus / dimple / pit (excluding sacral)
- External ear anomalies
- Philtrum deeply grooved
- Protruding lips
- Retinoschisis / retinal / chorioretinal coloboma
- Skin hypoplasia / aplasia / atrophy

Frequent
- Abnormal cry / voice / phonation disorder / nasal speech
- Anodontia / oligodontia / hypodontia
- Complete / partial microdontia
- Defect / anomaly of lacrimal system
- Dolichocephaly / scaphocephaly
- Dysplastic / thick / grooved fingernails
- High vaulted / narrow palate
- Lateral cleft lip / gingival cleft / paramedian nasal cleft
- Premature greying of hair
- Short columella / depressed nasal tip
- Speech troubles / aphasia / dysphasia / echolalia / mutism / logorrhea / dysprosodia
- Upslanted palpebral fissures / mongoloid slanting palpebral fissures

Occasional
- Agenesis / hypoplasia / aplasia of kidneys
- Cleft lip and palate
- Lip pits / fistulae
- Megaureter / hydronephrosis / pyeloureteral junction syndrome
- Microcornea
- Multicystic kidney / renal dysplasia
- Preaxial polydactyly (hand)
- Strabismus / squint


Very frequent
- Helix thickened / sculpted
- High nasal bridge
- Hypertelorism
- Intellectual deficit / mental / psychomotor retardation / learning disability
- Microcephaly
- Total / partial trisomy / duplication

Frequent
- Abnormal dermatoglyphics
- Anophthalmos / anophthalmia / microphthalmos / microphthalmia
- Clinodactyly of fifth finger
- Congenital cardiac anomaly / malformation / cardiopathy
- Epicanthic folds
- Hypotonia
- Micrognathia / retrognathia / micrognathism / retrognathism
- Prominent / bat ears
- Retinoblastoma
- Short hand / brachydactyly
- Short neck
- Syndactyly of fingers / interdigital palm
- Trigonocephaly

Occasional
- Anus / rectum anomalies
- Corpus callosum / septum pellucidum total / partial agenesis
- Holoprosencephaly / arhinencephaly / unique lateral ventricle
- Thumb hypoplasia / aplasia / absence
- Webbed neck / pterygium colli