Barber-say Syndrome

Table of contents:

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

Description

Barber Say syndrome (BSS) is a rare ectodermal dysplasia with neonatal onset characterized by congenital generalized hypertrichosis, atrophic skin, ectropion and microstomia.

Genes related to Barber-say Syndrome

TWIST2

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Clinical Features

Top most frequent phenotypes and symptoms related to Barber-say Syndrome

Intellectual disability
Global developmental delay
Hearing impairment
Growth delay
Hypertelorism
Failure to thrive
Micrognathia
Abnormal facial shape
Cleft palate
Low-set ears

And another 58 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

Barber-say Syndrome Is also known as bss, hypertrichosis-atrophic skin-ectropion-macrostomia syndrome, hypertrichosis, atrophic skin, ectropion, and macrostomia.

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.

Barber-say Syndrome Recommended genes panels

Panel Name, Specifity and genes Tested/covered
TWIST2. Complete sequencing. By Instituto de Medicina Genomica Instituto de Medicina Genomica (Spain). TWIST2 Specificity 100 % Genes 100 %
Disorders of Sex Development (DSD) and Infertility Sequencing Panel with CNV Detection. By PreventionGenetics PreventionGenetics (United States). ROR2, SALL1, BMP15, BMP4, SEMA3A, SEMA3E, BMP7, FOXL2, BRDT, SOS1, SOX10, SOX2, SOX3, SOX9, SRA1, SRD5A2, SRY, STAG3, STAR, AURKC , (...) View the complete list with 187 more genes Panel complete gene list ROR2, SALL1, BMP15, BMP4, SEMA3A, SEMA3E, BMP7, FOXL2, BRDT, SOS1, SOX10, SOX2, SOX3, SOX9, SRA1, SRD5A2, SRY, STAG3, STAR, AURKC, TAC3, TACR3, TAF4B, TBX15, HNF1B, TEX11, MED12, CEP41, TSPYL1, WNT4, WNT5A, WNT7A, WT1, WWOX, ZP1, ARL6, FBXL4, WDR11, SLC26A8, ZEB2, CBX2, SPRY4, SETBP1, PROKR2, TOE1, TP63, PCNT, MCM8, SUN5, TRIM32, ZFPM2, UBR1, FIG4, CATSPER1, IL17RD, CDKN1C, PSMC3IP, ARX, SYCP3, HHAT, PROK2, GRIP1, BBS7, KLHL10, CFTR, FRAS1, CHD4, PLCZ1, EVC2, TTC8, HFM1, B3GLCT, PADI6, CHD7, TWIST2, CLPP, BCOR, ZMYND15, CUL7, ICK, MCM9, RSPO1, GALNTL5, LHX4, WDR60, NOBOX, FEZF1, NANOS1, FAT4, CREBBP, FIGLA, FREM2, CFAP44, MAMLD1, CYB5A, CYP11A1, CYP11B1, CYP17A1, CYP19A1, TMEM70, BBS10, SEPT12, BBS12, CFAP43, CCDC141, ESCO2, SOHLH1, CCNQ, DHCR24, DHCR7, DHH, SYCE1, SPECC1L, WDR35, EPG5, DMRT1, DMRT2, DNAH1, DYNC2H1, DNMT3B, NSMF, NUP107, SPATA16, BBS9, DUSP6, TRAIP, BNC2, EFNB1, EIF2B1, EIF2B2, EIF2B3, EIF2B4, EIF2B5, EVC, AIRE, FGF10, FGF17, FGF8, FGFR1, FGFR2, FGFR3, FLNA, FLRT3, AKR1C4, FSHB, FSHR, GALT, GATA4, GLI3, GNRH1, GNRHR, GPC3, KISS1R, ADGRG2, AMH, AMHR2, HBA1, HCCS, HESX1, HFE, RIPK4, HOXA13, HOXA4, HOXB6, HS6ST1, HSD17B3, HSD17B4, HSD3B2, INSL3, IRF6, ANOS1, KISS1, AR, LEP, LEPR, LHB, LHCGR, LHX3, LMNA, MAP3K1, MID1, MKKS, MKS1, NEK1, ATF3, NPAS2, NR0B1, NR3C1, NR5A1, OPHN1, PCSK1, PDE4D, PEX1, ATRX, PITX2, AXL, POR, PICK1, PRLR, PROP1, PTDSS1, PTPN11, BBS1, BBS2, BBS4, BBS5, RBBP8 Specificity 1 % Genes 100 %
Disorders of Sex Development (DSD) Sequencing Panel with CNV Detection. By PreventionGenetics PreventionGenetics (United States). ROR2, SALL1, BMP15, BMP4, SEMA3A, BMP7, FOXL2, SOS1, SOX10, SOX2, SOX3, SOX9, SRD5A2, SRY, STAR, TAC3, TACR3, TBX15, HNF1B, MED12 , (...) View the complete list with 138 more genes Panel complete gene list ROR2, SALL1, BMP15, BMP4, SEMA3A, BMP7, FOXL2, SOS1, SOX10, SOX2, SOX3, SOX9, SRD5A2, SRY, STAR, TAC3, TACR3, TBX15, HNF1B, MED12, CEP41, TSPYL1, WNT4, WNT5A, WNT7A, WT1, WWOX, ARL6, FBXL4, WDR11, ZEB2, CBX2, SETBP1, PROKR2, TOE1, TP63, PCNT, TRIM32, ZFPM2, UBR1, FIG4, IL17RD, CDKN1C, PSMC3IP, ARX, HHAT, PROK2, GRIP1, BBS7, FRAS1, CHD4, EVC2, TTC8, B3GLCT, CHD7, TWIST2, BCOR, CUL7, ICK, MCM9, RSPO1, LHX4, WDR60, FEZF1, FAT4, CREBBP, FREM2, MAMLD1, CYB5A, CYP11A1, CYP11B1, CYP17A1, CYP19A1, TMEM70, BBS10, BBS12, ESCO2, CCNQ, DHCR24, DHCR7, DHH, SPECC1L, WDR35, EPG5, DMRT1, DMRT2, DYNC2H1, DNMT3B, NSMF, BBS9, TRAIP, BNC2, EFNB1, EVC, FGF10, FGF8, FGFR1, FGFR2, FGFR3, FLNA, AKR1C4, FSHB, FSHR, GATA4, GLI3, GNRH1, GNRHR, GPC3, KISS1R, AMH, AMHR2, HBA1, HCCS, HESX1, HFE, RIPK4, HOXA13, HOXA4, HOXB6, HS6ST1, HSD17B3, HSD17B4, HSD3B2, INSL3, IRF6, ANOS1, KISS1, AR, LEP, LEPR, LHB, LHCGR, LHX3, LMNA, MAP3K1, MID1, MKKS, MKS1, NEK1, ATF3, NR0B1, NR3C1, NR5A1, OPHN1, PCSK1, PDE4D, PEX1, ATRX, PITX2, POR, PROP1, PTDSS1, PTPN11, BBS1, BBS2, BBS4, BBS5, RBBP8 Specificity 1 % Genes 100 %
Ambiguous Genitalia Sequencing Panel with CNV Detection. By PreventionGenetics PreventionGenetics (United States). ROR2, SALL1, BMP4, SEMA3A, SOS1, SOX10, SOX2, SOX3, SOX9, SRD5A2, SRY, STAR, TBX15, CEP41, TSPYL1, WNT4, WNT5A, WNT7A, WT1, WWOX , (...) View the complete list with 65 more genes Panel complete gene list ROR2, SALL1, BMP4, SEMA3A, SOS1, SOX10, SOX2, SOX3, SOX9, SRD5A2, SRY, STAR, TBX15, CEP41, TSPYL1, WNT4, WNT5A, WNT7A, WT1, WWOX, SETBP1, PROKR2, TOE1, ZFPM2, UBR1, FIG4, IL17RD, CDKN1C, ARX, GRIP1, FRAS1, CHD4, B3GLCT, CHD7, TWIST2, BCOR, ICK, RSPO1, WDR60, FEZF1, FAT4, CREBBP, FREM2, CYB5A, CYP11A1, CYP11B1, CYP17A1, CYP19A1, ESCO2, CCNQ, DHCR24, DHCR7, DHH, SPECC1L, DMRT1, DYNC2H1, DNMT3B, NSMF, TRAIP, FGFR1, AKR1C4, GATA4, GNRHR, KISS1R, HCCS, RIPK4, HOXA13, HSD17B3, HSD17B4, HSD3B2, IRF6, ANOS1, AR, LHCGR, LMNA, MAP3K1, MKKS, MKS1, NEK1, NR0B1, NR5A1, OPHN1, ATRX, POR, PTPN11 Specificity 2 % Genes 100 %
Barber-Say syndrome Comprehensive test. By Connective Tissue Gene Tests (United States). TWIST2 Specificity 100 % Genes 100 %
Ablepharon-macrostomia syndrome Comprehensivetest. By Connective Tissue Gene Tests (United States). TWIST2 Specificity 100 % Genes 100 %
Barber-Say syndrome Deletion / Duplication test. By Connective Tissue Gene Tests (United States). TWIST2 Specificity 100 % Genes 100 %
Ablepharon-macrostomia syndrome Deletion / Duplication test. By Connective Tissue Gene Tests (United States). TWIST2 Specificity 100 % Genes 100 %

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Sources and references

You can check the following sources for additional information.

ORPHANET OMIM MESH Rare Disease Symptoms Checker

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