Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/palate Syndrome 3; Eec3

Description

Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome-3 (ECC3) is an autosomal dominant disorder comprising absence of the central parts of the hands and feet, resulting in split-hand/foot malformation, ectodermal dysplasia, and cleft lip with or without cleft palate (summary by Maas et al., 1996).Also see EEC1 (OMIM ), which has been mapped to chromosome 7q11.

Clinical Features

Top most frequent phenotypes and symptoms related to Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/palate Syndrome 3; Eec3

  • Intellectual disability
  • Short stature
  • Pica
  • Hearing impairment
  • Sensorineural hearing impairment
  • Cleft palate
  • Cryptorchidism
  • Flexion contracture
  • Depressed nasal bridge
  • Nevus
And another 95 symptoms. If you need more information about this disease we can help you.
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Incidence and onset information

— Based on the latest data available Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/palate Syndrome 3; Eec3 have a estimated birth prevalence of 1.11 per 100k worldwide.


Mendelian

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Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/palate Syndrome 3; Eec3 Recommended genes panels

Panel Name, Specifity and genes Tested/covered
P63-related disorders.

By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center in United States.

TP63
Specificity
100 %
Genes
100 %
TP63 Sequencing.

By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center in United States.

TP63
Specificity
100 %
Genes
100 %
Hypospadias Sequencing Panel.

By Genetic Services Laboratory University of Chicago in United States.

WT1, HNF1B, PITX2, MKKS, TMEM70, HSD3B2, CYP11A1, HCCS, BCOR, SOX2, FGFR3, AR, ARX, CREBBP, DHCR7, PTPN11, FGFR2, CDKN1C, GPC3, HBA1 , (...)

View the complete list with 41 more genes
Specificity
2 %
Genes
100 %
TP63.

By Institute for Human Genetics University Clinic Freiburg in Germany.

TP63
Specificity
100 %
Genes
100 %
TP63. Complete sequencing.

By Instituto de Medicina Genomica Instituto de Medicina Genomica in Spain.

TP63
Specificity
100 %
Genes
100 %
TP63. Sequencing of the exon 3.

By Instituto de Medicina Genomica Instituto de Medicina Genomica in Spain.

TP63
Specificity
100 %
Genes
100 %
TP63. Sequencing of the exons 13 and 14.

By Instituto de Medicina Genomica Instituto de Medicina Genomica in Spain.

TP63
Specificity
100 %
Genes
100 %
TP63,EDA,EDAR,EDARADD,WNT10A, NextGeneDx.Complete sequencing by NGS.

By Instituto de Medicina Genomica Instituto de Medicina Genomica in Spain.

TP63, EDA, EDAR, WNT10A, EDARADD
Specificity
20 %
Genes
100 %
TP63. Sequencing of the exons 6,7, 8 and 9.

By Instituto de Medicina Genomica Instituto de Medicina Genomica in Spain.

TP63
Specificity
100 %
Genes
100 %
TP63. Complete sequencing.

By Instituto de Medicina Genomica Instituto de Medicina Genomica in Spain.

TP63
Specificity
100 %
Genes
100 %
Ectodermal dysplasia syndrome (sequence analysis of TP63 gene).

By CGC Genetics in Portugal.

TP63
Specificity
100 %
Genes
100 %
Rapp-Hodgkin syndrome (sequence analysis of TP63 gene).

By CGC Genetics in Portugal.

TP63
Specificity
100 %
Genes
100 %
Ectodermal dysplasia and ectrodactyly (deletion/duplication analysis of TP63 gene).

By CGC Genetics in Portugal.

TP63
Specificity
100 %
Genes
100 %
Ectodermal dysplasia and ectrodactyly (deletion/duplication analysis of TP63 gene).

By CGC Genetics in Portugal.

TP63
Specificity
100 %
Genes
100 %
Congenital Limb Malformation Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

BRCA2, RECQL4, COL2A1, CC2D2A, CEP290, SHH, DHODH, MKS1, FGFR3, FGFR2, NIPBL, PALB2, BRIP1, RAD51C, FIG4, FLNA, PIGV, SALL1, CHSY1, NSDHL , (...)

View the complete list with 49 more genes
Specificity
2 %
Genes
100 %
Skeletal Disorders and Joint Problems Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

RECQL4, ALPL, ANKH, TYROBP, FKBP10, B4GALT7, IFITM5, LRP5, COL2A1, COL1A1, COL1A2, COL3A1, SOST, TGFB1, LEMD3, TNFRSF11A, CLCN7, SHH, FBN1, DHODH , (...)

View the complete list with 238 more genes
Specificity
1 %
Genes
100 %
TP63-Related Disorders via TP63 Gene Sequencing with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

TP63
Specificity
100 %
Genes
100 %
Disorders of Sex Development (DSD) and Infertility Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

HFE, FOXL2, STAR, WT1, HNF1B, HSD17B4, PITX2, ARL6, MKKS, TTC8, TRIM32, CYP11B1, TMEM70, HSD3B2, CYP11A1, HCCS, BCOR, CYB5A, GALT, BBS7 , (...)

View the complete list with 186 more genes
Specificity
1 %
Genes
100 %
Disorders of Sex Development (DSD) Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

HFE, FOXL2, STAR, WT1, HNF1B, HSD17B4, PITX2, ARL6, MKKS, TTC8, TRIM32, CYP11B1, TMEM70, HSD3B2, CYP11A1, HCCS, BCOR, CYB5A, BBS7, BBS5 , (...)

View the complete list with 138 more genes
Specificity
1 %
Genes
100 %
Cleft lip, cleft palate and related disorders NGS panel.

By Connective Tissue Gene Tests in United States.

COL2A1, COL9A1, COL9A3, COL9A2, COL11A1, COL11A2, TP63, SATB2, BMP4, IRF6, FOXE1, GRHL3, MSX1, NECTIN1, TGDS, SUMO1, TBX22
Specificity
6 %
Genes
100 %
Cleft lip, cleft palate and related disorders Deletion / Duplication panel.

By Connective Tissue Gene Tests in United States.

COL2A1, COL9A1, COL9A3, COL9A2, COL11A1, COL11A2, TP63, SATB2, BMP4, IRF6, FOXE1, GRHL3, MSX1, NECTIN1, TGDS, SUMO1, TBX22
Specificity
6 %
Genes
100 %
Cleft lip, cleft palate and related disorders Comprehensive panel.

By Connective Tissue Gene Tests in United States.

COL2A1, COL9A1, COL9A3, COL9A2, COL11A1, COL11A2, TP63, SATB2, BMP4, IRF6, FOXE1, GRHL3, MSX1, NECTIN1, TGDS, SUMO1, TBX22
Specificity
6 %
Genes
100 %
Mental Retardation and Dysmorphology - panels.

By MGZ Medical Genetics Center in Germany.

FMR1, UBE3A, PTEN, RECQL4, AGL, ATP7A, GAA, LRP5, SLC37A4, GNPTAB, GLB1, HSD17B10, OCRL, JAG1, NDP, HPRT1, NHS, RAF1, SMPD1, MECP2 , (...)

View the complete list with 323 more genes
Specificity
1 %
Genes
100 %
Syndromal Diseases - panels.

By MGZ Medical Genetics Center in Germany.

FMR1, UBE3A, PTEN, RECQL4, AGL, ATP7A, GAA, LRP5, SLC37A4, GNPTAB, GLB1, HSD17B10, OCRL, JAG1, NDP, HPRT1, NHS, RAF1, SMPD1, MECP2 , (...)

View the complete list with 322 more genes
Specificity
1 %
Genes
100 %
Rapp-Hodgkin syndrome.

By Centogene AG - the Rare Disease Company in Germany.

TP63
Specificity
100 %
Genes
100 %
Ectodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3.

By Centogene AG - the Rare Disease Company in Germany.

TP63
Specificity
100 %
Genes
100 %
ADULT syndrome, split hand-foot malformation.

By Centogene AG - the Rare Disease Company in Germany.

TP63
Specificity
100 %
Genes
100 %
Ankyloblepharon-ectodermal defects-cleft lip/palate.

By Centogene AG - the Rare Disease Company in Germany.

TP63
Specificity
100 %
Genes
100 %
Limb-mammary syndrome.

By Centogene AG - the Rare Disease Company in Germany.

TP63
Specificity
100 %
Genes
100 %
AllNeuro panel.

By Centogene AG - the Rare Disease Company in Germany.

F2, F5, FMR1, HTT, HFE, MTHFR, TTR, UBE3A, VHL, PTEN, AARS2, ABHD12, ACACA, ACAD9, ACADL, ACADM, ACADS, AGL, ACADVL, ACAT1 , (...)

View the complete list with 1185 more genes
Specificity
1 %
Genes
100 %
Cleft lip/palate panel.

By Centogene AG - the Rare Disease Company in Germany.

TP63, BMP4, IRF6, MSX1, NECTIN1, SUMO1
Specificity
17 %
Genes
100 %
Ectodermal dysplasia (including hypotrichosis and hypoplastic hair) Panel.

By CeGaT GmbH in Germany.

BCS1L, DSP, FGFR3, GJB6, PORCN, SHOC2, FGFR2, OFD1, GRHL2, WDR35, SOX18, CTSC, TP63, CDH3, WDR19, FGF10, GJA1, IFT43, IFT122, AXIN2 , (...)

View the complete list with 35 more genes
Specificity
2 %
Genes
100 %
Isolated limb hypoplasia and limb reduction defects: Split-hand/foot; Synostosis; isolated Brachydactyly; Polydactyly; Syndactyly Panel.

By CeGaT GmbH in Germany.

TRPV4, GLI3, TP63, BMPR1B, GJA1, HOXA11, ROR2, WNT7A, LRP4, HOXD13, PTHLH, GDF5, WNT10B, BMP2, BHLHA9, IHH, FBLN1, NOG, LMBR1, FGF16
Specificity
5 %
Genes
100 %
Test for TP63-Related Disorders.

By All Wales Genetics Laboratory Institute of Medical Genetics in United Kingdom.

TP63
Specificity
100 %
Genes
100 %
ADULT syndrome.

By Praxis fuer Humangenetik Wien in Austria.

TP63
Specificity
100 %
Genes
100 %
Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3.

By Praxis fuer Humangenetik Wien in Austria.

TP63
Specificity
100 %
Genes
100 %
Hay-Wells syndrome.

By Praxis fuer Humangenetik Wien in Austria.

TP63
Specificity
100 %
Genes
100 %
Limb-mammary syndrome.

By Praxis fuer Humangenetik Wien in Austria.

TP63
Specificity
100 %
Genes
100 %
Rapp-Hodgkin syndrome.

By Praxis fuer Humangenetik Wien in Austria.

TP63
Specificity
100 %
Genes
100 %
qChip.

By Quantitative Genomic Medicine Laboratories, SL in Spain.

FMR1, UBE3A, APC, PTEN, TP53, FOXL2, EYA1, COL2A1, OCA2, APP, WT1, PAX6, RB1, LEMD3, HNF1B, ELN, OCRL, PITX2, JAG1, NDP , (...)

View the complete list with 106 more genes
Specificity
1 %
Genes
100 %
qGenEx Craniofacial Anomalies.

By Quantitative Genomic Medicine Laboratories, SL in Spain.

RECQL4, EYA1, COL2A1, PAX6, FOXC1, PITX2, OTX2, SHH, DHODH, BCOR, CTSK, FGFR3, CHD7, GJB6, IKBKG, PORCN, RUNX2, FGFR2, RAD21, SMC3 , (...)

View the complete list with 116 more genes
Specificity
1 %
Genes
100 %
ADULT syndrome.

By MedGene in Slovakia.

TP63
Specificity
100 %
Genes
100 %
Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3.

By MedGene in Slovakia.

TP63
Specificity
100 %
Genes
100 %
Hay-Wells syndrome.

By MedGene in Slovakia.

TP63
Specificity
100 %
Genes
100 %
Limb-mammary syndrome.

By MedGene in Slovakia.

TP63
Specificity
100 %
Genes
100 %
Rapp-Hodgkin syndrome.

By MedGene in Slovakia.

TP63
Specificity
100 %
Genes
100 %
Invitae TP63-Related Disorders Test.

By Invitae in United States.

TP63
Specificity
100 %
Genes
100 %
Ectrodactyly, ectordermal dysplasia and cleft lip / palate syndrome 3 (EEC3), Syndrome: TP63 gene screening (exons 5-8, 13-14).

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases in Spain.

TP63
Specificity
100 %
Genes
100 %
Hay-Wells syndrome: TP63 gene screening (exons 13, 14).

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases in Spain.

TP63
Specificity
100 %
Genes
100 %
Ectodermal dysplasia.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases in Spain.

GJB6, IKBKG, TP63, CDH3, NFKBIA, EDA, EDAR, WNT10A, EDARADD, MSX1, EDA2R, TRAF6
Specificity
9 %
Genes
100 %
Limb Malformation: Sequencing Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

RECQL4, CC2D2A, CEP290, SHH, MKS1, FGFR3, FGFR2, NIPBL, PIGV, SALL1, CHSY1, SOX9, GLI3, TP63, CDH3, BMPR1B, PITX1, FGF10, SALL4, TBX5 , (...)

View the complete list with 26 more genes
Specificity
3 %
Genes
100 %
Skeletal Dysplasia: Sequencing Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

RECQL4, ALPL, ANKH, TYROBP, FKBP10, B4GALT7, IFITM5, LRP5, COL2A1, COL1A1, COL1A2, SOST, TGFB1, LEMD3, TNFRSF11A, PYCR1, CLCN7, CC2D2A, ATP6V0A2, TMEM67 , (...)

View the complete list with 143 more genes
Specificity
1 %
Genes
100 %
ADULT (Acro Dermato Ungual Lacrimal Tooth) Syndrome NGS Panel.

By Fulgent Genetics Fulgent Genetics in United States.

TP63, CDH3
Specificity
50 %
Genes
100 %
Skeletal Dysplasias NGS panel.

By Fulgent Genetics Fulgent Genetics in United States.

RECQL4, ALPL, ANKH, TYROBP, FKBP10, B4GALT7, IFITM5, LRP5, COL2A1, COL1A1, COL1A2, SOST, TGFB1, LEMD3, TNFRSF11A, PYCR1, CLCN7, CC2D2A, ATP6V0A2, TMEM67 , (...)

View the complete list with 141 more genes
Specificity
1 %
Genes
100 %
TP63.

By Fulgent Genetics Fulgent Genetics in United States.

TP63
Specificity
100 %
Genes
100 %
Brachydactyly / Syndactyly Panel.

By Blueprint Genetics in Finland.

RECQL4, DHCR7, CHSY1, SOX9, TP63, BMPR1B, GNAS, MYCN, ESCO2, HOXA13, ROR2, CCNQ, PDE4D, PTDSS1, HOXD13, PTHLH, GDF5, BMP2, IHH, NOG
Specificity
5 %
Genes
100 %
Ectodermal Dysplasia Panel.

By Blueprint Genetics in Finland.

BCS1L, DSP, GJB2, GJB6, PORCN, RMRP, ERCC2, WDR35, TP63, CDH3, JUP, EVC, EVC2, IFT122, EDA, MPLKIP, EDAR, WNT10A, EDARADD, HR , (...)

View the complete list with 3 more genes
Specificity
5 %
Genes
100 %
Comprehensive Skeletal Dysplasias and Disorders Panel.

By Blueprint Genetics in Finland.

RECQL4, ALPL, ANKH, TYROBP, FKBP10, B4GALT7, LRP5, COL2A1, COL1A1, COL1A2, SOST, TGFB1, LEMD3, TNFRSF11A, PYCR1, CLCN7, ATP6V0A2, FBN1, SERPINF1, SP7 , (...)

View the complete list with 226 more genes
Specificity
1 %
Genes
100 %
Cleft Lip/Palate and Associated Syndromes Panel.

By Blueprint Genetics in Finland.

COL2A1, KMT2D, COL9A1, COL9A3, COL9A2, COL11A1, COL11A2, TP63, KDM6A, SATB2, IRF6, FOXE1, GRHL3, MSX1, TGDS, TBX22
Specificity
7 %
Genes
100 %
Limb Malformations Panel.

By Blueprint Genetics in Finland.

BRCA2, RECQL4, DHODH, FANCC, HDAC8, RAD21, SMC3, SMC1A, NIPBL, PALB2, BRIP1, RAD51C, SALL1, DLX5, FANCB, NSDHL, ATR, NOTCH1, TP63, FGF10 , (...)

View the complete list with 25 more genes
Specificity
3 %
Genes
100 %
Comprehensive Growth Disorders / Skeletal Dysplasias and Disorders Panel.

By Blueprint Genetics in Finland.

RECQL4, ALPL, ANKH, TYROBP, FKBP10, B4GALT7, BCS1L, IFITM5, LRP5, COL2A1, COL1A1, COL1A2, COL3A1, SOST, TGFB1, LEMD3, TNFRSF11A, PYCR1, CLCN7, ATP6V0A2 , (...)

View the complete list with 288 more genes
Specificity
1 %
Genes
100 %
Ectrodactyly - ectodermal dysplasia - cleft lip/palate syndrome type 3.

By Bioarray in Spain.

TP63
Specificity
100 %
Genes
100 %
Ankyloblepharon - ectodermal defects - cleft lip/palate.

By Bioarray in Spain.

TP63
Specificity
100 %
Genes
100 %
FoundationOne® Heme.

By Foundation Medicine, Inc. in United States.

BRCA1, BRCA2, VHL, APC, MSH2, MSH6, MLH1, MUTYH, PTEN, RUNX1, TP53, PC, FOXL2, HNF1A, WT1, RB1, RET, TNFRSF11A, CPS1, SDHC , (...)

View the complete list with 385 more genes
Specificity
1 %
Genes
100 %
ECTRODACTYLY - ECTODERMAL DYSPLASIA - CLEFT LIP/ PALATE (EEC) SYNDROME.

By Laboratorio de Genetica Clinica SL in Spain.

TP63
Specificity
100 %
Genes
100 %
ACRO-DERMATO-UNGUAL-LACRIMAL-TOOTH (ADULT) SYNDROME.

By Laboratorio de Genetica Clinica SL in Spain.

TP63
Specificity
100 %
Genes
100 %
ANKYLOBLEPHARON - ECTODERMAL DEFECTS - CLEFT LIP / PALATE SYNDROME.

By Laboratorio de Genetica Clinica SL in Spain.

TP63
Specificity
100 %
Genes
100 %
HAY-WELLS SYNDROME.

By Laboratorio de Genetica Clinica SL in Spain.

TP63
Specificity
100 %
Genes
100 %
RAPP-HODGKIN SYNDROME.

By Laboratorio de Genetica Clinica SL in Spain.

TP63
Specificity
100 %
Genes
100 %
SPLIT HAND-SPLIT FOOT MALFORMATION.

By Laboratorio de Genetica Clinica SL in Spain.

DLX5, TP63, WNT10B, SEM1
Specificity
25 %
Genes
100 %
ADULT Syndrome , Sequencing TP63 Gene.

By Reference Laboratory Genetics in Spain.

TP63
Specificity
100 %
Genes
100 %
Rapp-Hodgkin Syndrome , Sequencing TP63 Gene.

By Reference Laboratory Genetics in Spain.

TP63
Specificity
100 %
Genes
100 %
Ectodermal Dysplasia -Ectrodactyly -Clefting Syndrome Type 3, Sequencing Exons (5-8, 13-14) TP63 Gene.

By Reference Laboratory Genetics in Spain.

TP63
Specificity
100 %
Genes
100 %
Hay-Wells Syndrome , Sequencing Exons (13,14) TP63 Gene.

By Reference Laboratory Genetics in Spain.

TP63
Specificity
100 %
Genes
100 %
Ectrodactyly and Related Disorders , Panel Massive Sequencing (NGS) 4 Genes.

By Reference Laboratory Genetics in Spain.

TP63, WNT10B, WNT3, LMBR1
Specificity
25 %
Genes
100 %
Ectodermal Dysplasia , Panel Massive Sequencing (NGS) 9 Genes.

By Reference Laboratory Genetics in Spain.

GJB6, IKBKG, TP63, CDH3, NFKBIA, EDA, EDAR, WNT10A, EDARADD
Specificity
12 %
Genes
100 %
Cardiology Genetic Panel (Full) , Panel Massive Sequencing (NGS) 96 Genes.

By Reference Laboratory Genetics in Spain.

TTR, RET, EYA4, PITX2, DSP, CRYAB, DNM1L, SLC25A3, TSFM, DNAJC19, PHOX2A, TAZ, DMD, DMPK, PTPN11, PHOX2B, FKTN, LMNA, CAV3, TTN , (...)

View the complete list with 75 more genes
Specificity
2 %
Genes
100 %
Brachydactyly , Panel Massive Sequencing (NGS) 18 Genes.

By Reference Laboratory Genetics in Spain.

RECQL4, CHSY1, SOX9, TP63, BMPR1B, GNAS, MGP, ESCO2, HOXA13, ROR2, TBX15, WNT7A, HOXD13, PTHLH, GDF5, BMP2, IHH, NOG
Specificity
6 %
Genes
100 %
Tempus xT assay.

By Tempus Labs, Inc. in United States.

BRCA1, BRCA2, MTHFR, VHL, APC, EPCAM, MSH2, PMS2, MSH6, MLH1, MUTYH, PTEN, RECQL4, RUNX1, TP53, ATP7B, FOXL2, HNF1A, WT1, RB1 , (...)

View the complete list with 571 more genes
Specificity
1 %
Genes
100 %
Tempus xO assay.

By Tempus Labs, Inc. in United States.

BRCA1, BRCA2, VHL, APC, EPCAM, MSH2, PMS2, MSH6, MLH1, MUTYH, PTEN, RECQL4, RUNX1, TP53, ABCB11, ABCB4, FKBP10, FOXL2, HNF1A, PPARG , (...)

View the complete list with 1693 more genes
Specificity
1 %
Genes
100 %
TP63-Related Disorders: gene sequencing.

By CEN4GEN Institute for Genomics and Molecular Diagnostics in Canada.

TP63
Specificity
100 %
Genes
100 %

Alternate names

Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/palate Syndrome 3; Eec3 Is also known as eec syndrome 3;ectrodactyly-ectodermal dysplasia-cleft lip/palate syndrome.



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