Potocki-shaffer Syndrome

Description

Potocki-Shaffer syndrome is characterized by multiple exostoses, parietal foramina, enlargement of the anterior fontanelle and occasionally intellectual deficit and mild cranio-facial anomalies. To date, 23 individuals from 14 families have been reported. The syndrome is caused by contiguous gene deletions on the short arm of chromosome 11 (11p11.2).

Clinical Features

Top most frequent phenotypes and symptoms related to Potocki-shaffer Syndrome

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Pica
  • Hearing impairment
  • Microcephaly
  • Growth delay
  • Nystagmus
  • Micrognathia
  • Strabismus
And another 48 symptoms. If you need more information about this disease we can help you.
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Incidence and onset information

Not enough data available about incidence and published cases.


Mendelian

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Potocki-shaffer Syndrome Recommended genes panels

Panel Name, Specifity and genes Tested/covered
PHF21A.

By Fulgent Genetics Fulgent Genetics in United States.

PHF21A
Specificity
100 %
Genes
34 %
Hereditary Multiple Osteochrondomas-HMO Type 2.

By Genetics Laboratory University of Oklahoma Health Sciences Center in United States.

EXT2
Specificity
100 %
Genes
34 %
EXT2 Sequencing.

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

EXT2
Specificity
100 %
Genes
34 %
EXT2 Deletion/duplication analysis.

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

EXT2
Specificity
100 %
Genes
34 %
EXT2.

By Department of Medical Genetics - Wuyts Lab Antwerp University Hospital in Belgium.

EXT2
Specificity
100 %
Genes
34 %
EXT2. MLPA testing.

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

EXT2
Specificity
100 %
Genes
34 %
EXT2. Complete sequencing.

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

EXT2
Specificity
100 %
Genes
34 %
CHOP Comprehensive Hereditary Cancer Panel.

By Division of Genomic Diagnostics The Children's Hospital of Philadelphia in United States.

BRCA1, BRCA2, HFE, APC, EPCAM, MSH2, PMS2, MSH6, MLH1, MUTYH, PTEN, RECQL4, RUNX1, ABCB11, RB1, SDHAF2, RET, SLC25A13, SDHC, FH , (...)

View the complete list with 86 more genes
Specificity
1 %
Genes
34 %
Exostoses (sequence analysis of EXT2 gene).

By CGC Genetics in Portugal.

EXT2
Specificity
100 %
Genes
34 %
Exostoses, multiple (deletion/duplication analysis of EXT1 and EXT2 genes).

By CGC Genetics in Portugal.

EXT2, EXT1
Specificity
50 %
Genes
34 %
Exostoses multiple (sequence analysis of EXT1 and EXT2 genes).

By CGC Genetics in Portugal.

EXT2, EXT1
Specificity
50 %
Genes
34 %
OncoRisk (NGS panel for 48 genes).

By CGC Genetics in Portugal.

BRCA1, BRCA2, VHL, APC, EPCAM, MSH2, PMS2, MSH6, MLH1, MUTYH, PTEN, TP53, WT1, RB1, SDHAF2, RET, SDHC, FH, SDHB, MEN1 , (...)

View the complete list with 28 more genes
Specificity
3 %
Genes
34 %
OncoRisk Plus (NGS panel for 89 genes).

By CGC Genetics in Portugal.

BRCA1, BRCA2, VHL, APC, EPCAM, MSH2, PMS2, MSH6, MLH1, MUTYH, PTEN, RECQL4, RUNX1, TP53, WT1, RB1, SDHAF2, RET, SDHC, FH , (...)

View the complete list with 69 more genes
Specificity
2 %
Genes
34 %
Hereditary Multiple Osteochondromas (HMO) Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

EXT2, EXT1
Specificity
50 %
Genes
34 %
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
67 %
Hereditary Multiple Osteochondromas (HMO) via the EXT2 Gene.

By PreventionGenetics PreventionGenetics in United States.

EXT2
Specificity
100 %
Genes
34 %
Multiple exostoses NGS panel.

By Connective Tissue Gene Tests in United States.

EXT2, EXT1
Specificity
50 %
Genes
34 %
Multiple exostoses Deletion / Duplication panel.

By Connective Tissue Gene Tests in United States.

EXT2, EXT1
Specificity
50 %
Genes
34 %
Multiple exostoses Comprehensive panel.

By Connective Tissue Gene Tests in United States.

EXT2, EXT1
Specificity
50 %
Genes
34 %
Hereditary Cancer Syndromes - panels.

By MGZ Medical Genetics Center in Germany.

BRCA1, BRCA2, VHL, APC, EPCAM, MSH2, PMS2, MSH6, MLH1, MUTYH, PTEN, RECQL4, RUNX1, TP53, HNF1A, WT1, RB1, SDHAF2, RET, SDHC , (...)

View the complete list with 80 more genes
Specificity
1 %
Genes
34 %
Exostoses, multiple, type 2.

By Centogene AG - the Rare Disease Company in Germany.

EXT2
Specificity
100 %
Genes
34 %
Single gene testing EXT2.

By CeGaT GmbH in Germany.

EXT2
Specificity
100 %
Genes
34 %
Cancer Predisposition.

By Asper Biogene Asper Biogene LLC in Estonia.

BRCA1, BRCA2, VHL, APC, EPCAM, MSH2, MSH6, MLH1, MUTYH, PTEN, RECQL4, RUNX1, TP53, HNF1A, WT1, RB1, SDHAF2, RET, SDHC, FH , (...)

View the complete list with 69 more genes
Specificity
2 %
Genes
34 %
Hereditary multiple osteochondromas, EXT2 sequencing.

By Molecular Diagnostics Laboratory Seoul National University Hospital in South Korea.

EXT2
Specificity
100 %
Genes
34 %
Invitae Hereditary Multiple Osteochondromas Panel.

By Invitae in United States.

EXT2, EXT1
Specificity
50 %
Genes
34 %
Osteochondromatosis type I and II: EXT1 and EXT2 genes sequence analysis.

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

EXT2, EXT1
Specificity
50 %
Genes
34 %
Osteochondromatosis type II: EXT2 gene deletions-duplications analysis (MLPA).

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

EXT2
Specificity
100 %
Genes
34 %
Osteochondromatosis type II: EXT2 gene sequence analysis.

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

EXT2
Specificity
100 %
Genes
34 %
Congenital disorder of O-linked glycosylation (CDG).

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

B4GALT7, KRT5, FKTN, POMGNT1, FKRP, FGF23, POMT2, POMT1, ISPD, B4GAT1, POMGNT2, LARGE1, COL4A1, CHSY1, CHST14, B3GAT3, B3GALT6, B3GLCT, EXT2, EXT1 , (...)

View the complete list with 9 more genes
Specificity
4 %
Genes
34 %
Congenital Disorders of Glycosylation: Sequencing Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

B4GALT7, ATP6V0A2, SRD5A3, GNE, DDOST, DHDDS, DPM3, PGM1, RFT1, COG1, COG8, TUSC3, MPDU1, DPM1, COG7, ALG9, ALG1, ALG8, ALG12, B4GALT1 , (...)

View the complete list with 46 more genes
Specificity
2 %
Genes
34 %
Disproportionate Short Stature: Sequencing Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

ANKH, COL2A1, COL1A1, FBN1, SLC39A13, AGPS, CTSK, FAM20C, FGFR3, COL10A1, PTPN11, RUNX2, FGFR2, CDKN1C, PRKAR1A, SLC26A2, TRPV4, FGFR1, SHOX, ANO5 , (...)

View the complete list with 65 more genes
Specificity
2 %
Genes
34 %
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
34 %
Disproportionate Short Stature: Deletion/Duplication Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

ANKH, COL2A1, COL1A1, FBN1, SLC39A13, CTSK, FAM20C, FGFR3, COL10A1, PTPN11, RUNX2, FGFR2, CDKN1C, PRKAR1A, SLC26A2, TRPV4, FGFR1, SHOX, ANO5, HSPG2 , (...)

View the complete list with 56 more genes
Specificity
2 %
Genes
34 %
Congenital Disorders of Glycosylation: Deletion/Duplication Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

B4GALT7, ATP6V0A2, SRD5A3, GNE, DDOST, DHDDS, DPM3, PGM1, RFT1, COG1, COG8, TUSC3, MPDU1, DPM1, COG7, ALG9, ALG8, ALG12, B4GALT1, SLC35A1 , (...)

View the complete list with 45 more genes
Specificity
2 %
Genes
34 %
Hereditary Cancer NGS Panel.

By Fulgent Genetics Fulgent Genetics in United States.

BRCA1, BRCA2, VHL, APC, EPCAM, MSH2, PMS2, MSH6, MLH1, MUTYH, PTEN, RECQL4, TP53, WT1, RB1, SDHAF2, RET, MC1R, TYR, KIF1B , (...)

View the complete list with 92 more genes
Specificity
1 %
Genes
34 %
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
34 %
Hereditary-Multiple-Osteochondromas.

By Fulgent Genetics Fulgent Genetics in United States.

EXT2, EXT1
Specificity
50 %
Genes
34 %
EXT2.

By Fulgent Genetics Fulgent Genetics in United States.

EXT2
Specificity
100 %
Genes
34 %
Comprehensive Cancer Panel.

By Fulgent Genetics Fulgent Genetics in United States.

BRCA1, BRCA2, VHL, APC, EPCAM, MSH2, PMS2, MSH6, MLH1, MUTYH, PTEN, RECQL4, RUNX1, TP53, WT1, RB1, SDHAF2, RET, MC1R, TYR , (...)

View the complete list with 104 more genes
Specificity
1 %
Genes
34 %
Hemato-oncology chromosomal microarray.

By Pittsburgh Cytogenetics Laboratory University of Pittsburgh Medical Center in United States.

BRCA1, BRCA2, APC, MSH2, MLH1, TP53, COL1A1, RB1, BLM, BRAF, HRAS, ALK, PTCH1, PHOX2B, SUFU, CDH1, FUS, SETD2, KDM5C, PAX3 , (...)

View the complete list with 72 more genes
Specificity
2 %
Genes
34 %
Comprehensive Hereditary Cancer Panel.

By Blueprint Genetics in Finland.

BRCA1, BRCA2, VHL, APC, EPCAM, MSH2, PMS2, MSH6, MLH1, MUTYH, PTEN, RECQL4, RUNX1, TP53, HNF1A, WT1, SDHAF2, RET, SDHC, RAF1 , (...)

View the complete list with 126 more genes
Specificity
1 %
Genes
34 %
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
67 %
Exostosis and Related Disorders Panel.

By Blueprint Genetics in Finland.

PTPN11, EXT2, EXT1
Specificity
34 %
Genes
34 %
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
67 %
Multiple cartilaginous exostoses type 2.

By Bioarray in Spain.

EXT2
Specificity
100 %
Genes
34 %
Rapid microarray (CGH and SNP).

By Allele Diagnostics Allele Diagnostics in United States.

FMR1, UBE3A, VHL, APC, PTEN, TP53, USH1C, ATP7A, FOXL2, HBB, EYA1, OCA2, WT1, PAX6, CHM, RB1, HNF1B, RET, ELN, OCRL , (...)

View the complete list with 153 more genes
Specificity
2 %
Genes
67 %
High-Resolution Rapid Microarray (CGH and SNP).

By Allele Diagnostics Allele Diagnostics in United States.

FMR1, UBE3A, VHL, APC, PTEN, TP53, USH1C, ATP7A, FOXL2, HBB, EYA1, OCA2, WT1, PAX6, CHM, RB1, HNF1B, RET, ELN, OCRL , (...)

View the complete list with 153 more genes
Specificity
2 %
Genes
67 %
Caris MI TumorSeek 592-Gene NGS Panel.

By Caris Life Sciences in United States.

BRCA1, BRCA2, VHL, APC, MSH2, PMS2, MSH6, MLH1, MUTYH, PTEN, RECQL4, RUNX1, TP53, FOXL2, HNF1A, PPARG, COL1A1, WT1, RB1, SDHAF2 , (...)

View the complete list with 571 more genes
Specificity
1 %
Genes
34 %
MULTIPLE EXOSTOSES (MULTIPLE OSTEOCHONDROMAS).

By Laboratorio de Genetica Clinica SL in Spain.

EXT2, EXT1
Specificity
50 %
Genes
34 %
Osteochondromatosis Type 2 , Sequencing EXT2 Gene.

By Reference Laboratory Genetics in Spain.

EXT2
Specificity
100 %
Genes
34 %
Osteochondromatosis Type 2 , Deletions-Duplications (MLPA) EXT2 Gene.

By Reference Laboratory Genetics in Spain.

EXT2
Specificity
100 %
Genes
34 %
Oncology Genetic Panel , Panel Massive Sequencing (NGS) 90 Genes.

By Reference Laboratory Genetics in Spain.

BRCA1, BRCA2, VHL, APC, EPCAM, MSH2, PMS2, MSH6, MLH1, MUTYH, PTEN, RECQL4, RUNX1, TP53, HNF1A, WT1, RB1, SDHAF2, RET, SDHC , (...)

View the complete list with 70 more genes
Specificity
2 %
Genes
34 %
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
34 %
Hereditary Multiple Osteochondromas: gene deletion/duplication panel.

By CEN4GEN Institute for Genomics and Molecular Diagnostics in Canada.

EXT2, EXT1
Specificity
50 %
Genes
34 %
Hereditary Multiple Osteochondromas: gene sequencing panel.

By CEN4GEN Institute for Genomics and Molecular Diagnostics in Canada.

EXT2, EXT1
Specificity
50 %
Genes
34 %
CEN4GEN Comprehensive Hereditary Cancer Syndrome: Gene sequencing Panel.

By CEN4GEN Institute for Genomics and Molecular Diagnostics in Canada.

BRCA1, BRCA2, HFE, VHL, APC, EPCAM, MSH2, PMS2, MSH6, MLH1, MUTYH, PTEN, RECQL4, RUNX1, TP53, WT1, RB1, SDHAF2, RET, MC1R , (...)

View the complete list with 123 more genes
Specificity
1 %
Genes
34 %
CEN4GEN Breast cancer: Extended gene sequencing Panel.

By CEN4GEN Institute for Genomics and Molecular Diagnostics in Canada.

BRCA1, BRCA2, PTEN, TP53, RB1, RET, SEPT9, FGFR2, ATM, CDH1, CDKN2A, FGFR1, GATA3, NEK2, ERBB3, EP300, BAP1, PIK3CA, EGFR, AKT1 , (...)

View the complete list with 25 more genes
Specificity
3 %
Genes
34 %
Frontonasal Dysplasia 2 - ALX4 Sequencing.

By Children's Hospital Colorado Molecular Genetics Laboratory Children's Hospital Colorado in United States.

ALX4
Specificity
100 %
Genes
34 %
Frontonasal Dysplasia 2 - ALX4 Del/Dup Analysis.

By Children's Hospital Colorado Molecular Genetics Laboratory Children's Hospital Colorado in United States.

ALX4
Specificity
100 %
Genes
34 %
Craniosynostosis.

By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University in United States.

RECQL4, ALPL, FBN1, FGFR3, FGFR2, FGFR1, WDR35, RAB23, POR, MSX2, TWIST1, TGFBR1, TGFBR2, SKI, GLI3, WDR19, ALX4, EFNB1, ASXL1, MASP1 , (...)

View the complete list with 3 more genes
Specificity
5 %
Genes
34 %
Craniofacial Sequencing Panel.

By Genetic Services Laboratory University of Chicago in United States.

RECQL4, FAM20C, FGFR3, RUNX2, FGFR2, FGFR1, FLNA, WDR35, RAB23, POR, MSX2, TWIST1, TGFBR1, TGFBR2, SKI, GLI3, WDR19, ALX4, EFNB1, IFT43 , (...)

View the complete list with 11 more genes
Specificity
4 %
Genes
34 %
Craniofacial Deletion/Duplication Panel.

By Genetic Services Laboratory University of Chicago in United States.

RECQL4, FAM20C, FGFR3, RUNX2, FGFR2, FGFR1, FLNA, WDR35, RAB23, POR, MSX2, TWIST1, TGFBR1, TGFBR2, SKI, GLI3, WDR19, ALX4, EFNB1, IFT43 , (...)

View the complete list with 11 more genes
Specificity
4 %
Genes
34 %
Facial Dysostosis Sequencing Panel.

By Genetic Services Laboratory University of Chicago in United States.

DHODH, CHD7, PRKAR1A, POLR1C, TCOF1, POLR1D, ALX4, EFNB1, EFTUD2, EVC, EVC2, MYCN, ALX1, PDE4D, ALX3, ZSWIM6, SF3B4
Specificity
6 %
Genes
34 %
ALX4. Complete sequencing.

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

ALX4
Specificity
100 %
Genes
34 %
Craniofacial Del/Dup Panel.

By Division of Genomic Diagnostics The Children's Hospital of Philadelphia in United States.

RECQL4, ALPL, EYA1, DHODH, CHD7, RUNX2, PRKAR1A, SALL1, POLR1C, SIX5, TCOF1, SIX1, POLR1D, WDR35, RAB23, POR, MSX2, TWIST1, SKI, GLI3 , (...)

View the complete list with 23 more genes
Specificity
3 %
Genes
34 %
Craniofacial Seq + Del/Dup Panel.

By Division of Genomic Diagnostics The Children's Hospital of Philadelphia in United States.

RECQL4, ALPL, EYA1, DHODH, CHD7, RUNX2, PRKAR1A, SALL1, POLR1C, SIX5, TCOF1, SIX1, POLR1D, WDR35, RAB23, POR, MSX2, TWIST1, SKI, GLI3 , (...)

View the complete list with 23 more genes
Specificity
3 %
Genes
34 %
Craniofacial Seq Analysis.

By Division of Genomic Diagnostics The Children's Hospital of Philadelphia in United States.

RECQL4, ALPL, EYA1, DHODH, CHD7, RUNX2, PRKAR1A, SALL1, POLR1C, SIX5, TCOF1, SIX1, POLR1D, WDR35, RAB23, POR, MSX2, TWIST1, SKI, GLI3 , (...)

View the complete list with 23 more genes
Specificity
3 %
Genes
34 %
Parietal foramina 2 (sequence analysis of ALX4 gene).

By CGC Genetics in Portugal.

ALX4
Specificity
100 %
Genes
34 %
Frontonasal dysplasia 2 (sequence analysis of ALX4 gene).

By CGC Genetics in Portugal.

ALX4
Specificity
100 %
Genes
34 %
Craniosynostosis (NGS panel for 30 genes).

By CGC Genetics in Portugal.

RECQL4, ALPL, FGFR3, FGFR2, FGFR1, WDR35, RAB23, POR, TWIST1, TGFBR1, TGFBR2, SKI, GLI3, IFT140, WDR19, SCARF2, ALX4, EFNB1, MASP1, IL11RA , (...)

View the complete list with 10 more genes
Specificity
4 %
Genes
34 %
Craniofacial anomalies (deletions/duplications analysis of FGFR1, FGFR2, FGFR3, TWIST1, MSX2, ALX1, ALX3, ALX4, EFNB1 and RUNX2 genes).

By CGC Genetics in Portugal.

FGFR3, RUNX2, FGFR2, FGFR1, MSX2, TWIST1, ALX4, EFNB1, ALX1, ALX3
Specificity
10 %
Genes
34 %
Frontonasal dysplasia and Craniofrontonasal syndrome Deletion / Duplication panel.

By Connective Tissue Gene Tests in United States.

ALX4, EFNB1, ALX1, ALX3, SIX2
Specificity
20 %
Genes
34 %
Frontonasal dysplasia and Craniofrontonasal syndrome Comprehensive panel.

By Connective Tissue Gene Tests in United States.

ALX4, EFNB1, ALX1, ALX3, SIX2
Specificity
20 %
Genes
34 %
Frontonasal dysplasia and Craniofrontonasal syndrome NGS panel.

By Connective Tissue Gene Tests in United States.

ALX4, EFNB1, ALX1, ALX3, SIX2
Specificity
20 %
Genes
34 %
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
34 %
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
34 %
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
34 %
Parietal Foramina type 2.

By Centogene AG - the Rare Disease Company in Germany.

ALX4
Specificity
100 %
Genes
34 %
Craniosynostosis syndromes Panel.

By CeGaT GmbH in Germany.

RECQL4, FGFR3, FGFR2, FGFR1, WDR35, RAB23, POR, MSX2, TWIST1, SKI, WDR19, ALX4, EFNB1, IFT43, IL11RA, IFT122, FREM1, MEGF8, ERF, TCF12
Specificity
5 %
Genes
34 %
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
34 %
Intellectual Disability NGS Panel.

By Fulgent Genetics Fulgent Genetics in United States.

BRCA2, F5, FMR1, MTHFR, TTR, UBE3A, PTEN, MCCC1, MCCC2, AGL, ACAT1, GYS2, ARG1, ATP7A, AUH, BCS1L, ADSL, FBLN5, LRP5, COL1A2 , (...)

View the complete list with 372 more genes
Specificity
1 %
Genes
34 %
ALX4.

By Fulgent Genetics Fulgent Genetics in United States.

ALX4
Specificity
100 %
Genes
34 %
Facial Dysostosis and Related Disorders Panel.

By Blueprint Genetics in Finland.

ALPL, DHODH, CREBBP, HDAC8, SMC3, SMC1A, NIPBL, HSPG2, POLR1C, TCOF1, POLR1D, EHMT1, UBE2A, TWIST1, ALX4, EP300, EFNB1, EFTUD2, EVC, EVC2 , (...)

View the complete list with 6 more genes
Specificity
4 %
Genes
34 %
Craniosynostosis Panel.

By Blueprint Genetics in Finland.

RECQL4, ALPL, FGFR3, FGFR2, FGFR1, PAX3, EDNRB, SOX10, WDR35, RAB23, POR, MSX2, TWIST1, TGFBR1, TGFBR2, SKI, GLI3, IFT140, WDR19, ALX4 , (...)

View the complete list with 17 more genes
Specificity
3 %
Genes
34 %
Frontonasal dysplasia type 2.

By Bioarray in Spain.

ALX4
Specificity
100 %
Genes
34 %
FRONTONASAL DYSPLASIA.

By Laboratorio de Genetica Clinica SL in Spain.

ALX4, ALX1, ALX3
Specificity
34 %
Genes
34 %
PARIETAL FORAMINA TYPE 2.

By Laboratorio de Genetica Clinica SL in Spain.

ALX4
Specificity
100 %
Genes
34 %
Frontonasal Dysplasia Type 2, Sequencing ALX4 Gene.

By Reference Laboratory Genetics in Spain.

ALX4
Specificity
100 %
Genes
34 %
Cleidocranial Dysplasia, Panel Massive Sequencing (NGS) RUNX2, ALX4, MSX2 Genes.

By Reference Laboratory Genetics in Spain.

RUNX2, MSX2, ALX4
Specificity
34 %
Genes
34 %
Frontonasal Dysplasia , Panel Massive Sequencing (NGS) 4 Genes.

By Reference Laboratory Genetics in Spain.

ALX4, EFNB1, ALX1, ALX3
Specificity
25 %
Genes
34 %

Alternate names

Potocki-shaffer Syndrome Is also known as pss, chromosome 11p11.2 deletion syndrome, proximal 11p deletion syndrome;p11pds, defect11 syndrome;11p11.2 deletion; proximal 11p deletion syndrome.



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