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Branchio-oculo-facial syndrome
1 OMIM reference -
1 associated gene
49 connected diseases
37 signs/symptoms
Disease Type of connection
Familial pancreatic carcinoma
Desmoid tumor
Giant cell glioblastoma
Adrenocortical carcinoma
B-cell chronic lymphocytic leukemia
Essential thrombocythemia
Li-Fraumeni syndrome
Papilloma of choroid plexus
Precursor B-cell acute lymphoblastic leukemia
Atrial septal defect, ostium secundum type
Atrial septal defect, sinus venosus type
Single ventricular septal defect
Situs inversus totalis
Tetralogy of Fallot
Scalp-ear-nipple syndrome
APC-related attenuated familial adenomatous polyposis
Acute myeloblastic leukemia with maturation
Acute myeloblastic leukemia without maturation
Acute myelomonocytic leukemia
Acute promyelocytic leukemia
Familial adenomatous polyposis due to 5q22.2 microdeletion
Gardner syndrome
Turcot syndrome with polyposis
Burkitt lymphoma
Precursor T-cell acute lymphoblastic leukemia
Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
Autosomal dominant nonsyndromic intellectual deficit
Hepatocellular carcinoma, childhood-onset
Familial retinoblastoma
Monosomy 13q14
Unilateral retinoblastoma
Autosomal dominant secondary polycythemia
Familial isolated dilated cardiomyopathy
Familial prostate cancer
Hereditary breast and ovarian cancer syndrome
Hereditary breast cancer
Hereditary site-specific ovarian cancer syndrome
Multiple paragangliomas associated with polycythemia
Muscular dystrophy, Selcen type
Primary peritoneal carcinoma
Sporadic pheochromocytoma
Sporadic secreting paraganglioma
Homozygous familial hypercholesterolemia
Familial partial lipodystrophy associated with PPARG mutations
Inflammatory myofibroblastic tumor
Translocation renal cell carcinoma

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

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
External references:
1 OMIM reference -
No MeSH references

Gene symbol UniProt reference OMIM reference
TFAP2A P05549107580
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
- Low set ears / posteriorly rotated ears
- Philtrum deeply grooved
- Protruding lips
- Retinoschisis / retinal / chorioretinal coloboma
- Skin hypoplasia / aplasia / atrophy

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

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