Scalp-ear-nipple Syndrome

Table of contents:

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

Description

Scalp-ear-nipple syndrome is characterised by the following triad: areas of hairless raw skin over the scalp (present at birth and healing during childhood), prominent, hypoplastic ears with almost absent pinnae, and bilateral amastia. Thirty cases have been described so far. Renal and urinary tract abnormalities, as well as cataract, have also been observed. Transmission is autosomal dominant.

Genes related to Scalp-ear-nipple Syndrome

KCTD1

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Clinical Features

Top most frequent phenotypes and symptoms related to Scalp-ear-nipple Syndrome

Global developmental delay
Generalized hypotonia
Abnormal facial shape
Cataract
Low-set ears
Depressed nasal bridge
Hypertension
Epicanthus
Myopia
Anteverted nares

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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

Scalp-ear-nipple Syndrome Is also known as finlay-marks syndrome, sen 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.

Scalp-ear-nipple Syndrome Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Scalp-ear-nipple syndrome (sequence analysis of KCTD1 gene). By CGC Genetics (Portugal). KCTD1 Specificity 100 % Genes 100 %
Ectodermal dysplasia (including hypotrichosis and hypoplastic hair) Panel. By CeGaT GmbH (Germany). BCS1L, SNRPE, SOX18, ST14, TRPS1, IFT122, WNT10A, EDARADD, SHOC2, LPAR6, APCDD1, TP63, MPLKIP, UBR1, BANF1, CDH3, PORCN, CDSN, KCTD1, WDR19 , (...) View the complete list with 35 more genes Panel complete gene list BCS1L, SNRPE, SOX18, ST14, TRPS1, IFT122, WNT10A, EDARADD, SHOC2, LPAR6, APCDD1, TP63, MPLKIP, UBR1, BANF1, CDH3, PORCN, CDSN, KCTD1, WDR19, LIPH, NECTIN4, CYP26C1, TWIST2, ANTXR1, GTF2H5, DSG4, CTSC, OFD1, GRHL2, KRT74, EDAR, DLX3, WDR35, IFT43, DSP, EDA, FGF10, FGFR2, FGFR3, GJA1, GJB6, HOXC13, HR, KRT14, KRT81, KRT83, KRT85, KRT86, MSX1, NFKBIA, PIGL, PKP1, AXIN2, NECTIN1 Specificity 2 % Genes 100 %
KCTD1. By Fulgent Genetics Fulgent Genetics (United States). KCTD1 Specificity 100 % Genes 100 %
KidneySeq - 264 Genes. By Iowa Institute of Human Genetics University of Iowa (United States). ROBO2, CNNM2, SALL1, ATXN10, SCNN1A, SCNN1B, SCNN1G, SDCCAG8, BMP4, SEMA3E, SGPL1, SIX1, SIX2, SIX5, SLC12A1, SLC17A5, SLC2A2, SLC34A1, SLC3A1, SLC4A4 , (...) View the complete list with 230 more genes Panel complete gene list ROBO2, CNNM2, SALL1, ATXN10, SCNN1A, SCNN1B, SCNN1G, SDCCAG8, BMP4, SEMA3E, SGPL1, SIX1, SIX2, SIX5, SLC12A1, SLC17A5, SLC2A2, SLC34A1, SLC3A1, SLC4A4, SLC5A1, SLC5A2, SLC7A9, SLC9A3R1, SLIT2, SMARCAL1, TBX18, HNF1B, TNFRSF1A, TNXB, TRPC6, TSC1, TSC2, CEP41, TTR, UMOD, UPK3A, VDR, VHL, VPS33B, WNT4, WT1, XDH, ZMPSTE24, ARL6, NEK8, NPHS2, SLC2A9, IFT122, CA2, CACNA1D, CACNA1H, ANLN, CD2AP, TMEM237, WNK1, WNK4, CASR, SALL4, TRAP1, CD151, MAGED2, TRIM32, NLRP3, BSND, ACTN4, SCARB2, ZNF423, PLCE1, SRGAP1, XPO5, SARS2, INVS, CEP83, SLC22A12, TRPM6, SOX17, KCTD1, ALG1, WDR19, IFT27, NUP205, CRB2, GRIP1, BBS7, COQ8B, NPHP4, CHD1L, KIF14, SLC41A1, GREM1, TTC8, CLCN5, COQ6, CLCNKA, CLCNKB, SLC34A3, VIPAS39, CLDN16, CLDN19, CHD7, ADCY10, IFT74, INPP5E, KIF12, AHI1, COL4A1, COL4A3, COL4A4, COL4A5, COL4A6, PDSS2, FREM1, CREBBP, DHTKD1, INF2, B9D1, TCTN3, C2CD3, TMEM216, HOGA1, CTNS, COQ2, ARHGAP24, FREM2, ARL13B, CUBN, CUL3, TTC21B, OFD1, TCTN2, CPLANE1, CYP11B1, WDR73, CYP24A1, TCTN1, CSPP1, BBS10, DACH1, BBS12, ANKS6, TMEM138, C8orf37, WDPCP, XPNPEP3, BBIP1, TMEM107, TMEM67, DGKE, DHCR7, B9D2, IQCB1, NUP93, DLC1, DLG1, CEP290, DSTYK, IFT140, RPGRIP1L, FAN1, CEP164, WDR35, CC2D2A, IFT80, DMP1, GLIS2, DYNC2H1, IFT43, NUP107, BBS9, IFT172, KIF7, E2F3, EGF, EHHADH, EMP2, ENPP1, AGTR1, AGXT, EYA1, FAH, FAT1, FGA, FGF20, FGF23, FGFR1, FN1, FOXP1, FXYD2, GATA3, GDNF, ALMS1, GLA, GLI3, GPC3, GRHPR, GSN, HNF4A, HPRT1, HSD11B2, CFI, APOE, ITGA3, ITGA8, ITGB4, APOL1, JAG1, ANOS1, KCNJ1, KCNJ10, APRT, KCNJ5, AQP2, KLHL3, LAMB2, LMNA, LMX1B, LYZ, LZTFL1, ARHGDIA, MEFV, MKKS, MKS1, MYH9, MYO1E, NEK1, NOTCH2, NPHP1, NPHP3, NPHS1, NR3C2, OCRL, ATP6V1B1, PAX2, PBX1, ATP6V0A4, ATP7B, PHEX, AVPR2, PKD1, PKD2, PKHD1, PMM2, B2M, BBS1, BBS2, PTPRO, BBS4, BBS5, RET Specificity 1 % Genes 100 %
Adams-Oliver Syndrome Panel. By Blueprint Genetics (Finland). UBR1, KCTD1, DOCK6, EOGT, DLL4, ARHGAP31, RBPJ, NOTCH1 Specificity 13 % Genes 100 %

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Sources and references

You can check the following sources for additional information.

OMIM MESH ORPHANET Rare Disease Symptoms Checker

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