Branchio-oculo-facial Syndrome

Table of contents:

Description
Related genes
Clinical Features
Incidence and onset information
Alternative Names
Researches and researchers
Gene Panels
Sources and references

Description

Branchio-oculo-facial syndrome (BOFS) is characterised by low birth weight and growth retardation, bilateral branchial clefts that may be hemangiomatous, sometimes with linear skin lesions behind the ears ('burn-like' lesions), congenital strabismus, obstructed nasolacrimal ducts, a broad nasal bridge with a flattened nasal tip, a protruding upper lip with an unusually broad and prominent philtrum, and full mouth.

Genes related to Branchio-oculo-facial Syndrome

TFAP2A

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Clinical Features

Top most frequent phenotypes and symptoms related to Branchio-oculo-facial Syndrome

Seizures
Short stature
Hearing impairment
Microcephaly
Growth delay
Hypertelorism
Nystagmus
Micrognathia
Strabismus
Sensorineural hearing impairment

And another 107 symptoms. If you need more information about this disease we can help you.

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Incidence and onset information

— Currently we don't have prevalence information about this disease (Not enough data available about incidence and published cases.)
— No data available about the known clinical features onset.

Alternative names

Branchio-oculo-facial Syndrome Is also known as bofs, hemangiomatous branchial clefts-lip pseudocleft syndrome, branchial clefts with characteristic facies, growth retardation, imperforate nasolacrimal duct, and premature aging, bof syndrome, lip pseudocleft-hemangiomatous branchial cyst syndrome.

Researches and researchers

Currently, we don't have any information about doctors, researches or researchers related to this disease. Please contact us if you would like to appear here.

Branchio-oculo-facial Syndrome Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Hearing Loss Advanced Sequencing and CNV Evaluation. By Athena Diagnostics Inc (United States). BCS1L, ROR1, SALL1, SEMA3E, SIX1, SIX5, SLC12A1, SLC19A2, SLC22A4, SNAI2, SMPX, SOX10, TBX1, TCOF1, TECTA, TFAP2A, TIMM8A, TJP2, TMPRSS3, USH1C , (...) View the complete list with 149 more genes Panel complete gene list BCS1L, ROR1, SALL1, SEMA3E, SIX1, SIX5, SLC12A1, SLC19A2, SLC22A4, SNAI2, SMPX, SOX10, TBX1, TCOF1, TECTA, TFAP2A, TIMM8A, TJP2, TMPRSS3, USH1C, USH2A, CLRN1, TSPEAR, WFS1, ACTB, ESPN, CLIC5, BDP1, CDH23, CABP2, RIPOR2, CACNA1D, ACTG1, PCDH15, P2RX2, DIAPH3, ANKH, OSBPL2, ABHD12, STRC, CD151, CD164, USH1G, WHRN, OTOA, NLRP3, SLC4A11, BSND, TMC1, TRIOBP, LARS2, CDC14A, CHSY1, ADGRV1, HOMER2, CCDC50, DCDC2, GIPC3, SLC17A8, POLR1C, CLDN14, POLR1D, CHD7, CLPP, LHFPL5, EPS8L2, DIABLO, COCH, COL11A1, COL11A2, COL4A3, COL4A4, COL4A5, COL4A6, COL9A1, COL9A2, COL9A3, PNPT1, ADCY1, MYH14, SLITRK6, CRYM, CISD2, CIB2, LRTOMT, ELMOD3, PDZD7, NARS2, MARVELD2, LOXHD1, SYNE4, TPRN, OTOGL, TMEM132E, GRHL2, GSDME, ILDR1, DIAPH1, DLX5, TBC1D24, CEMIP, PJVK, DNMT1, DSPP, TMIE, MIR96, GRXCR1, S1PR2, EDN3, EDNRA, EDNRB, CEACAM16, GRXCR2, EPS8, ERCC2, ERCC3, ESRRB, EYA1, EYA4, FGF3, FGFR1, FGFR2, FGFR3, FOXI1, GATA3, ALMS1, GJB2, GJB6, HARS2, HGF, HOXB1, HSD17B4, TNC, KARS, KCNE1, KCNJ10, KCNQ1, KCNQ4, MANBA, MCM2, MET, MT-TS1, MT-TS2, MYH9, MYO15A, MYO3A, MYO6, MYO7A, NDP, NR2F1, OPA1, ATP2B2, OTOF, OTOG, ATP6V1B1, ATP6V1B2, PAX3, AIFM1, SLC26A4, PEX1, PEX6, SERPINB6, PMP22, POU3F4, POU4F3, SLC26A5, PRPS1, PTPRQ, RDX Specificity 1 % Genes 100 %
Branchio-oculo-facial syndrome. By Center for Human Genetics, Inc (United States). TFAP2A Specificity 100 % Genes 100 %
Branchiooculofacial Syndrome - TFAP2A Sequencing. By Children's Hospital Colorado Molecular Genetics Laboratory Children's Hospital Colorado (United States). TFAP2A Specificity 100 % Genes 100 %
Anophthalmia/microphthalmia. By Medical Genetics Laboratory, Kennedy Center Juliane Marie Center, Rigshospitalet (Denmark). BMP4, SIX6, SOX2, TFAP2A, VAX1, ALX1, PORCN, MFRP, RAX, VSX2, BCOR, COL4A1, FREM1, CRYBA4, TENM3, STRA6, FOXE3, PRSS56, ALDH1A3, GDF3 , (...) View the complete list with 9 more genes Panel complete gene list BMP4, SIX6, SOX2, TFAP2A, VAX1, ALX1, PORCN, MFRP, RAX, VSX2, BCOR, COL4A1, FREM1, CRYBA4, TENM3, STRA6, FOXE3, PRSS56, ALDH1A3, GDF3, GDF6, GJA1, GLI3, ABCB6, HCCS, NHS, OTX2, PAX2, RARB Specificity 4 % Genes 100 %
Renal Cystic Disorders Sequencing Panel. By Genetic Services Laboratory University of Chicago (United States). SALL1, SDCCAG8, HNF1B, TFAP2A, TSC1, TSC2, CEP41, UMOD, VHL, ARL6, NEK8, TMEM237, TRIM32, CDC73, INVS, CEP83, DCDC2, WDR19, CRB2, BBS7 , (...) View the complete list with 55 more genes Panel complete gene list SALL1, SDCCAG8, HNF1B, TFAP2A, TSC1, TSC2, CEP41, UMOD, VHL, ARL6, NEK8, TMEM237, TRIM32, CDC73, INVS, CEP83, DCDC2, WDR19, CRB2, BBS7, NPHP4, KIF14, KIAA0586, TTC8, INPP5E, AHI1, B9D1, BMPER, TCTN3, CEP104, TMEM216, ARL13B, TTC21B, OFD1, TCTN2, CPLANE1, TCTN1, CSPP1, BBS10, BBS12, ANKS6, TMEM138, WDPCP, XPNPEP3, TMEM107, TMEM67, GLIS3, B9D2, IQCB1, CEP290, KIAA0556, IFT140, RPGRIP1L, CEP164, CC2D2A, GLIS2, BBS9, IFT172, KIF7, TMEM231, JAG1, MKKS, MKS1, MUC1, NOTCH2, NPHP1, NPHP3, PDE6D, PKD2, PKHD1, BBS1, BBS2, BBS4, BBS5, REN Specificity 2 % Genes 100 %
TFAP2A. Secuenciación completa. By Instituto de Medicina Genomica Instituto de Medicina Genomica (Spain). TFAP2A Specificity 100 % Genes 100 %
Branchiooculofacial Syndrome (sequence analysis of TFAP2A gene). By CGC Genetics (Portugal). TFAP2A Specificity 100 % Genes 100 %
Syndromic deafness (NGS panel for 62 genes). By CGC Genetics (Portugal). SEMA3E, SIX1, SIX5, SLC19A2, SNAI2, SOX10, TCOF1, TFAP2A, TIMM8A, TYR, USH1C, USH2A, CLRN1, WFS1, CDH23, CACNA1D, PCDH15, ANKH, ABHD12, CD151 , (...) View the complete list with 41 more genes Panel complete gene list SEMA3E, SIX1, SIX5, SLC19A2, SNAI2, SOX10, TCOF1, TFAP2A, TIMM8A, TYR, USH1C, USH2A, CLRN1, WFS1, CDH23, CACNA1D, PCDH15, ANKH, ABHD12, CD151, USH1G, WHRN, NLRP3, BSND, CHSY1, ADGRV1, CDKN1C, POLR1C, POLR1D, CHD7, COL11A1, COL11A2, COL4A3, COL4A4, COL4A5, COL4A6, COL9A1, COL9A2, COL9A3, SLITRK6, CIB2, PDZD7, DLX5, EDN3, EDNRB, EYA1, FGF3, FOXI1, GATA3, ALMS1, HOXB1, KCNE1, KCNJ10, KCNQ1, MANBA, MITF, MYO7A, NDP, ATP6V1B1, PAX3, SLC26A4 Specificity 2 % Genes 100 %

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Sources and references

You can check the following sources for additional information.

OMIM ORPHANET Rare Disease Symptoms Checker

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