Seizures, Scoliosis, And Macrocephaly Syndrome; Ssms

Description

Seizures-scoliosis-macrocephaly syndrome is a rare, genetic neurometabolic disorder characterized by seizures, macrocephaly, delayed motor milestones, moderate intellectual disability, scoliosis with no exostoses, muscular hypotonia present since birth, as well as renal dysfunction. Coarse facial features (including hypertelorism and long hypoplastic philtrum) and bilateral cryptorchidism (in males) are also commonly reported. Additional manifestations include abnormal gastrointestinal motility (resulting in constipation, diarrhea, gastroesophageal reflux and dysphagia), gait disturbances, strabismus and ventricular septal defects.

Clinical Features

Top most frequent phenotypes and symptoms related to Seizures, Scoliosis, And Macrocephaly Syndrome; Ssms

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Scoliosis
  • Hypertelorism
  • Strabismus
  • Cryptorchidism
  • Hypertension
  • Macrocephaly
  • Ventricular septal defect
And another 14 symptoms. If you need more information about this disease we can help you.
Click here to know more about Mendelian.

Incidence and onset information

Not enough data available about incidence and published cases.


Mendelian

Accelerate your rare disease diagnosis with us

Learn more

Seizures, Scoliosis, And Macrocephaly Syndrome; Ssms Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Hereditary Multiple Osteochrondomas-HMO Type 2.

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

EXT2
Specificity
100 %
Genes
100 %
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
100 %
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
100 %
EXT2.

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

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

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

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

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

EXT2
Specificity
100 %
Genes
100 %
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
100 %
Exostoses (sequence analysis of EXT2 gene).

By CGC Genetics in Portugal.

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

By CGC Genetics in Portugal.

EXT2, EXT1
Specificity
50 %
Genes
100 %
Exostoses multiple (sequence analysis of EXT1 and EXT2 genes).

By CGC Genetics in Portugal.

EXT2, EXT1
Specificity
50 %
Genes
100 %
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
100 %
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
100 %
Hereditary Multiple Osteochondromas (HMO) Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

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

By PreventionGenetics PreventionGenetics in United States.

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

By Connective Tissue Gene Tests in United States.

EXT2, EXT1
Specificity
50 %
Genes
100 %
Multiple exostoses Deletion / Duplication panel.

By Connective Tissue Gene Tests in United States.

EXT2, EXT1
Specificity
50 %
Genes
100 %
Multiple exostoses Comprehensive panel.

By Connective Tissue Gene Tests in United States.

EXT2, EXT1
Specificity
50 %
Genes
100 %
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
100 %
Exostoses, multiple, type 2.

By Centogene AG - the Rare Disease Company in Germany.

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

By CeGaT GmbH in Germany.

EXT2
Specificity
100 %
Genes
100 %
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
100 %
Hereditary multiple osteochondromas, EXT2 sequencing.

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

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

By Invitae in United States.

EXT2, EXT1
Specificity
50 %
Genes
100 %
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
100 %
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
100 %
Osteochondromatosis type II: EXT2 gene sequence analysis.

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

EXT2
Specificity
100 %
Genes
100 %
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
100 %
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
100 %
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
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 %
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
100 %
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
100 %
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
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 %
Hereditary-Multiple-Osteochondromas.

By Fulgent Genetics Fulgent Genetics in United States.

EXT2, EXT1
Specificity
50 %
Genes
100 %
EXT2.

By Fulgent Genetics Fulgent Genetics in United States.

EXT2
Specificity
100 %
Genes
100 %
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
100 %
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
100 %
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
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 %
Exostosis and Related Disorders Panel.

By Blueprint Genetics in Finland.

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

By Bioarray in Spain.

EXT2
Specificity
100 %
Genes
100 %
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
1 %
Genes
100 %
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
1 %
Genes
100 %
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
100 %
MULTIPLE EXOSTOSES (MULTIPLE OSTEOCHONDROMAS).

By Laboratorio de Genetica Clinica SL in Spain.

EXT2, EXT1
Specificity
50 %
Genes
100 %
Osteochondromatosis Type 2 , Sequencing EXT2 Gene.

By Reference Laboratory Genetics in Spain.

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

By Reference Laboratory Genetics in Spain.

EXT2
Specificity
100 %
Genes
100 %
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
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 %
Hereditary Multiple Osteochondromas: gene deletion/duplication panel.

By CEN4GEN Institute for Genomics and Molecular Diagnostics in Canada.

EXT2, EXT1
Specificity
50 %
Genes
100 %
Hereditary Multiple Osteochondromas: gene sequencing panel.

By CEN4GEN Institute for Genomics and Molecular Diagnostics in Canada.

EXT2, EXT1
Specificity
50 %
Genes
100 %
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
100 %
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
100 %

Alternate names

Seizures, Scoliosis, And Macrocephaly Syndrome; Ssms Is also known as ;ssm syndrome.



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like WAARDENBURG SYNDROME, TYPE 2D; WS2D

Need help with a diagnosis?

Learn more about how to achieve it with Mendelian


Learn more