Short Stature, Idiopathic, X-linked; Iss

Description

SHOX-related short stature is a primary bone dysplasia characterized by a height that is 2 standard deviations below the corresponding mean height for a given age, sex and population group, in the absence of obvious skeletal abnormalities and other diseases and with normal developmental milestones. Patients present normal bone age with normal limbs, shortening of the extremities (significantly lower extremities-trunk and sitting height-to-height ratios), normal hGH values, normal karyotype, and Leri-Weill dyschondrosteosis-like radiological signs (e.g. triangularization of distal radial epiphyses, pyramidalization of distal carpal row, and lucency of the distal radius on the ulnar side). Mesomelic disproportions and Madelung deformity are not apparent at a young age, but may develop later in life or never.

Clinical Features

Top most frequent phenotypes and symptoms related to Short Stature, Idiopathic, X-linked; Iss

  • Short stature
  • Scoliosis
  • Micrognathia
  • High palate
  • Short neck
  • Obesity
  • Genu valgum
  • Short foot
  • Cubitus valgus
  • Skeletal muscle hypertrophy
And another 6 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.


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Short Stature, Idiopathic, X-linked; Iss Recommended genes panels

Panel Name, Specifity and genes Tested/covered
SHOX (GHD) DNA Sequencing and Deletion Test.

By Athena Diagnostics Inc in United States.

SHOX
Specificity
100 %
Genes
100 %
Growth Hormone Deficiency (GHD) Evaluation.

By Athena Diagnostics Inc in United States.

GHRHR, SHOX, GH1
Specificity
34 %
Genes
100 %
SHOX Deletion/duplication analysis.

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

SHOX
Specificity
100 %
Genes
100 %
SHOX Sequencing.

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

SHOX
Specificity
100 %
Genes
100 %
SHOX. MLPA testing.

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

SHOX
Specificity
100 %
Genes
100 %
SHOX. MLPA testing.

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

SHOX
Specificity
100 %
Genes
100 %
SHOX. Complete sequencing.

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

SHOX
Specificity
100 %
Genes
100 %
SHOX. Complete sequencing.

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

SHOX
Specificity
100 %
Genes
100 %
SHOX Seq + Del/Dup.

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

SHOX
Specificity
100 %
Genes
100 %
SHOX Del/Dup.

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

SHOX
Specificity
100 %
Genes
100 %
SHOX Seq Analysis.

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

SHOX
Specificity
100 %
Genes
100 %
Leri-Weill dyschondrosteosis (sequence analysis of SHOX gene).

By CGC Genetics in Portugal.

SHOX
Specificity
100 %
Genes
100 %
Short Stature (sequence analysis of SHOX gene).

By CGC Genetics in Portugal.

SHOX
Specificity
100 %
Genes
100 %
Short stature (deletion/duplication analysis on SHOX gene).

By CGC Genetics in Portugal.

SHOX
Specificity
100 %
Genes
100 %
Leri-Weill dyschondrosteosis (deletion/duplication analysis of SHOX gene).

By CGC Genetics in Portugal.

SHOX
Specificity
100 %
Genes
100 %
Lysosomal and peroxisomal diseases (NGS panel of 109 genes).

By CGC Genetics in Portugal.

GAA, PPARG, AMACR, HSD17B4, CLCN7, PSAP, GNPTAB, GLB1, ATP6V0A2, SMPD1, HPS1, DNM1L, BLOC1S3, HPS6, SCP2, CTSD, AP3B1, GRN, AGPS, LMBRD1 , (...)

View the complete list with 88 more genes
Specificity
1 %
Genes
100 %
Lysosomal and peroxisomal diseases (NGS panel of 109 genes).

By CGC Genetics in Portugal.

GAA, PPARG, AMACR, HSD17B4, CLCN7, PSAP, GNPTAB, GLB1, ATP6V0A2, SMPD1, HPS1, DNM1L, BLOC1S3, HPS6, SCP2, CTSD, AP3B1, GRN, AGPS, LMBRD1 , (...)

View the complete list with 88 more genes
Specificity
1 %
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 %
Short stature Homeobox (SHOX)-related Haploinsufficiency Disorder via the SHOX Gene.

By PreventionGenetics PreventionGenetics in United States.

SHOX
Specificity
100 %
Genes
100 %
Short stature, idiopathic, X-linked Comprehensive Test.

By Connective Tissue Gene Tests in United States.

SHOX
Specificity
100 %
Genes
100 %
Short stature, idiopathic, X-linked Sequencing Test.

By Connective Tissue Gene Tests in United States.

SHOX
Specificity
100 %
Genes
100 %
Short stature, idiopathic, X-linked Deletion / Duplication Test.

By Connective Tissue Gene Tests in United States.

SHOX
Specificity
100 %
Genes
100 %
Leri-Weill dyschondrosteosis Deletion / Duplication Test.

By Connective Tissue Gene Tests in United States.

SHOX
Specificity
100 %
Genes
100 %
Leri-Weill dyschondrosteosis Sequencing Test.

By Connective Tissue Gene Tests in United States.

SHOX
Specificity
100 %
Genes
100 %
Langer mesomelic dysplasia Deletion / Duplication Test.

By Connective Tissue Gene Tests in United States.

SHOX
Specificity
100 %
Genes
100 %
Langer mesomelic dysplasia Comprehensive Test.

By Connective Tissue Gene Tests in United States.

SHOX
Specificity
100 %
Genes
100 %
Leri-Weill dyschondrosteosis Comprehensive Test.

By Connective Tissue Gene Tests in United States.

SHOX
Specificity
100 %
Genes
100 %
Langer mesomelic dysplasia Sequencing Test.

By Connective Tissue Gene Tests in United States.

SHOX
Specificity
100 %
Genes
100 %
SHOX-Related Haploinsufficiency Disorders.

By Bioscientia GmbH Center for Human Genetics in Germany.

SHOX
Specificity
100 %
Genes
100 %
Langer Mesomelic Dwarfism.

By Bioscientia GmbH Center for Human Genetics in Germany.

SHOX
Specificity
100 %
Genes
100 %
SHOX deficiency.

By Synlab MVZ Humane Genetik München Synlab MVZ Humane Genetik München in Germany.

SHOX
Specificity
100 %
Genes
100 %
Leri-Weill dyschondrosteosis - SHOX.

By DNA Diagnostics Laboratory University Hospital Ostrava in Czech Republic.

SHOX
Specificity
100 %
Genes
100 %
Short stature.

By Centogene AG - the Rare Disease Company in Germany.

SHOX
Specificity
100 %
Genes
100 %
SHOX deficiency.

By bio.logis Center for Human Genetics Diagnosticum in Germany.

SHOX
Specificity
100 %
Genes
100 %
SHOX DELETION FISH.

By DNAbiolab Cretan Center for Research and Development of Applications on Genetics and Molecular Biology in Greece.

SHOX
Specificity
100 %
Genes
100 %
SHOX-Related Haploinsufficiency Disorders.

By MVZ Dortmund Dr. Eberhard & Partner in Germany.

SHOX
Specificity
100 %
Genes
100 %
SHOX, point mutations.

By Molecular Genetics and Cytogenetics, Clinical Laboratory Service Faculty of Medicine, Pontificia Universidad Católica de Chile in Chile.

SHOX
Specificity
100 %
Genes
100 %
SHOX, deletions and duplications.

By Molecular Genetics and Cytogenetics, Clinical Laboratory Service Faculty of Medicine, Pontificia Universidad Católica de Chile in Chile.

SHOX
Specificity
100 %
Genes
100 %
SHOX-Related Haploinsufficiency Disorders.

By Labor-MVZ Westmecklenburg Laboratory for Molecular Diagnostics in Germany.

SHOX
Specificity
100 %
Genes
100 %
Langer mesomelic dysplasia.

By Praxis fuer Humangenetik Wien in Austria.

SHOX
Specificity
100 %
Genes
100 %
Leri-Weill Dyschondrosteosis.

By Praxis fuer Humangenetik Wien in Austria.

SHOX
Specificity
100 %
Genes
100 %
Short stature, idiopathic familial.

By Praxis fuer Humangenetik Wien in Austria.

SHOX
Specificity
100 %
Genes
100 %
SHOX.

By Division Human Genetics Medical University Innsbruck in Austria.

SHOX
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 %
Langer mesomelic dysplasia.

By MedGene in Slovakia.

SHOX
Specificity
100 %
Genes
100 %
Leri-Weill Dyschondrosteosis.

By MedGene in Slovakia.

SHOX
Specificity
100 %
Genes
100 %
Short stature, idiopathic familial.

By MedGene in Slovakia.

SHOX
Specificity
100 %
Genes
100 %
Leri-Weill dischondrosteosis: SHOX gene deletions-duplications analysis (MLPA).

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

SHOX
Specificity
100 %
Genes
100 %
Leri-Weill dischondrosteosis: SHOX gene sequence analysis.

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

SHOX
Specificity
100 %
Genes
100 %
NOONAN, LEOPARD, COSTELLO and CARDIOFACIOCUTANEOUS SYNDROME.

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

PRKCG, RAF1, IL2RG, FGFR3, BRAF, HRAS, KRAS, MAP2K1, NRAS, PTPN11, SHOC2, SOS1, RIT1, MAP2K2, CBL, MET, NF1, SHOX, ANKRD11, SPRED1 , (...)

View the complete list with 24 more genes
Specificity
3 %
Genes
100 %
SHOX - Gene Sequencing & Del/Dup analysis.

By Genome Diagnostics VU University Medical Center in Netherlands.

SHOX
Specificity
100 %
Genes
100 %
SHOX-Related Haploinsufficiency Disorders: SHOX Full Gene Sequencing.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

SHOX
Specificity
100 %
Genes
100 %
Proportionate Short Stature/Small for Gestational Age: Sequencing and Deletion/Duplication Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

PITX2, RAF1, SOX2, HESX1, BLM, CREBBP, DHCR7, KRAS, PTPN11, SOS1, SMC3, SMC1A, NIPBL, NBN, PROP1, BTK, GHRHR, SHOX, POU1F1, GH1 , (...)

View the complete list with 25 more genes
Specificity
3 %
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 %
X-chromosome High Resolution microarray analysis.

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

ATP7A, OPN1MW, CHM, GPR143, HSD17B10, OCRL, CACNA1F, NDP, HPRT1, NHS, ALAS2, RPGR, MECP2, RS1, PHKA2, RP2, OTC, HCCS, PDHA1, GK , (...)

View the complete list with 140 more genes
Specificity
1 %
Genes
100 %
Comprehensive Short Stature Syndrome Panel.

By Blueprint Genetics in Finland.

BCS1L, PITX2, OTX2, RAF1, SOX2, HESX1, FGFR3, BRAF, CREBBP, DHCR7, HRAS, KRAS, MAP2K1, NRAS, PTPN11, SHOC2, SOS1, HDAC8, RIT1, MAP2K2 , (...)

View the complete list with 55 more genes
Specificity
2 %
Genes
100 %
Skeletal Dysplasias Core Panel.

By Blueprint Genetics in Finland.

ALPL, ANKH, FKBP10, LRP5, COL2A1, COL1A1, COL1A2, TGFB1, TNFRSF11A, CLCN7, SERPINF1, SLC39A13, P3H1, CRTAP, PLOD2, AGPS, CTSK, CYP27B1, FAM20C, CA2 , (...)

View the complete list with 91 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 %
Micromelic Dysplasia Panel.

By Blueprint Genetics in Finland.

FBN1, FGFR3, SMAD4, PRKAR1A, SHOX, WDR35, SOX9, ADAMTSL2, IFT140, LTBP2, BMPR1B, WDR19, GNAS, IFT122, EXT1, WNT5A, ROR2, LIFR, SLC35D1, TRIP11 , (...)

View the complete list with 7 more genes
Specificity
4 %
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 %
Shox-related short stature.

By Bioarray in Spain.

SHOX
Specificity
100 %
Genes
100 %
Leri-Weill dyschondrosteosis.

By Bioarray in Spain.

SHOX
Specificity
100 %
Genes
100 %
Shox-related short stature.

By Bioarray in Spain.

SHOX
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 %
LERI-WEILL SYNDROME.

By Laboratorio de Genetica Clinica SL in Spain.

SHOX
Specificity
100 %
Genes
100 %
SHORT STATURE (IDIOPATHIC SHORT STATURE).

By Laboratorio de Genetica Clinica SL in Spain.

SHOX
Specificity
100 %
Genes
100 %
Leri-Weill Dyschondrosteosis , Sequencing SHOX Gene.

By Reference Laboratory Genetics in Spain.

SHOX
Specificity
100 %
Genes
100 %
Leri-Weill Dyschondrosteosis , Deletions-Duplications (MLPA) SHOX Gene.

By Reference Laboratory Genetics in Spain.

SHOX
Specificity
100 %
Genes
100 %
Leri-Weill dyschondrosteosis (LWD).

By Labor Dr. Wisplinghoff in Germany.

SHOX
Specificity
100 %
Genes
100 %
Langer mesomelic dysplasia.

By Labor Dr. Wisplinghoff in Germany.

SHOX
Specificity
100 %
Genes
100 %
Short stature, idiopathic, X-linked, SHOX.

By Labor Dr. Wisplinghoff in Germany.

SHOX
Specificity
100 %
Genes
100 %


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