SHOX gene related symptoms and diseases

All the information presented here about the SHOX gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: NCBIGENE,ORPHANET,OMIM,HGNC, Mendelian Rare Disease Search Engine.

Top 5 symptoms and clinical features associated to SHOX gene

Symptoms // Phenotype % Cases
Madelung deformity Very Common - Between 80% and 100% cases
Mesomelia Common - Between 50% and 80% cases
High palate Common - Between 50% and 80% cases
Abnormality of the carpal bones Common - Between 50% and 80% cases
Disproportionate short-limb short stature Common - Between 50% and 80% cases

Other less frequent symptoms and clinical features

Patients with SHOX gene alterations may also develop some of the following symptoms and phenotypes:
  • Commonly - More than 50% cases

  • Hypoplasia of the radius
  • Radial bowing
  • Hypoplasia of the ulna
  • Tibial bowing
  • Not very common - Between 30% and 50% cases

  • Short stature
  • Abnormality of epiphysis morphology
  • Severe short stature
  • Short tibia

And 68 more phenotypes, you can get all of them using our tools for rare diseases.

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Rare diseases associated to SHOX gene

Here you will find a list of rare diseases related to the SHOX. You can also use our tool to get a more accurate diagnosis based on your current symptoms.


SHOX-RELATED SHORT STATURE


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.

Most common symptoms of SHOX-RELATED SHORT STATURE

  • Short stature
  • Scoliosis
  • Micrognathia
  • High palate
  • Short neck


More info about SHOX-RELATED SHORT STATURE

SOURCES: ORPHANET MESH OMIM

LÉRI-WEILL DYSCHONDROSTEOSIS


Alternate names

LÉRI-WEILL DYSCHONDROSTEOSIS Is also known as lÉri-weill syndrome

Description

Léri-Weill dyschondrosteosis (LWD) is a skeletal dysplasia marked by disproportionate short stature and the characteristic Madelung wrist deformity (see this term).

Most common symptoms of LÉRI-WEILL DYSCHONDROSTEOSIS

  • Depressed nasal bridge
  • Brachydactyly
  • Wide nasal bridge
  • Clinodactyly of the 5th finger
  • Joint stiffness


More info about LÉRI-WEILL DYSCHONDROSTEOSIS

SOURCES: ORPHANET

LERI-WEILL DYSCHONDROSTEOSIS; LWD


Alternate names

LERI-WEILL DYSCHONDROSTEOSIS; LWD Is also known as dyschondrosteosis, dco

Description

Leri-Weill dyschondrosteosis (LWD) is a dominantly inherited skeletal dysplasia characterized by short stature, mesomelia, and Madelung wrist deformity. Although the disorder occurs in both sexes, it is usually more severe in females, perhaps due to sex difference in estrogen levels. However, pubertal development and fertility are generally normal in both sexes with the disorder (summary by Ross et al., 2005). The Madelung wrist deformity includes deformity of the distal radius and ulna and proximal carpal bones (Langer, 1965).See also Langer mesomelic dysplasia (LMD ), a more severe phenotype that results from homozygous defect in the SHOX or SHOXY genes.

Most common symptoms of LERI-WEILL DYSCHONDROSTEOSIS; LWD

  • Short stature
  • Hearing impairment
  • Scoliosis
  • High palate
  • Severe short stature


More info about LERI-WEILL DYSCHONDROSTEOSIS; LWD

SOURCES: OMIM

LANGER MESOMELIC DYSPLASIA


Alternate names

LANGER MESOMELIC DYSPLASIA Is also known as mesomelic dwarfism, langer type, mesomelic dwarfism of the hypoplastic ulna, fibula, and mandible type, dyschondrosteosis, homozygous

Description

Langer mesomelic dysplasia (LMD) is characterized by severe disproportionate short stature with mesomelic and rhizomelic shortening of the upper and lower limbs.

Most common symptoms of LANGER MESOMELIC DYSPLASIA

  • Micrognathia
  • High palate
  • Severe short stature
  • Micromelia
  • Lumbar hyperlordosis


More info about LANGER MESOMELIC DYSPLASIA

SOURCES: ORPHANET MESH OMIM


Potential gene panels for SHOX gene

SHOX (GHD) DNA Sequencing and Deletion Test Panel

United States.

By Athena Diagnostics Inc

This panel specifically test the SHOX gene.

More info about this panel

Growth Hormone Deficiency (GHD) Evaluation Panel

United States.

By Athena Diagnostics Inc Growth Hormone Deficiency (GHD) Evaluation that also includes the following genes: SHOX GH1 GHRHR

More info about this panel

SHOX Deletion/duplication analysis Panel

United States.

By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center

This panel specifically test the SHOX gene.

More info about this panel

SHOX Sequencing Panel

United States.

By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center

This panel specifically test the SHOX gene.

More info about this panel

SHOX. MLPA testing Panel

Spain.

By Instituto de Medicina Genomica Instituto de Medicina Genomica

This panel specifically test the SHOX gene.

More info about this panel

SHOX. MLPA testing Panel

Spain.

By Instituto de Medicina Genomica Instituto de Medicina Genomica

This panel specifically test the SHOX gene.

More info about this panel

SHOX. Complete sequencing Panel

Spain.

By Instituto de Medicina Genomica Instituto de Medicina Genomica

This panel specifically test the SHOX gene.

More info about this panel

SHOX. Complete sequencing Panel

Spain.

By Instituto de Medicina Genomica Instituto de Medicina Genomica

This panel specifically test the SHOX gene.

More info about this panel

SHOX Seq + Del/Dup Panel

United States.

By Division of Genomic Diagnostics The Children's Hospital of Philadelphia

This panel specifically test the SHOX gene.

More info about this panel

SHOX Del/Dup Panel

United States.

By Division of Genomic Diagnostics The Children's Hospital of Philadelphia

This panel specifically test the SHOX gene.

More info about this panel

SHOX Seq Analysis Panel

United States.

By Division of Genomic Diagnostics The Children's Hospital of Philadelphia

This panel specifically test the SHOX gene.

More info about this panel

Leri-Weill dyschondrosteosis (sequence analysis of SHOX gene) Panel

Portugal.

By CGC Genetics

This panel specifically test the SHOX gene.

More info about this panel

Short Stature (sequence analysis of SHOX gene) Panel

Portugal.

By CGC Genetics

This panel specifically test the SHOX gene.

More info about this panel

Short stature (deletion/duplication analysis on SHOX gene) Panel

Portugal.

By CGC Genetics

This panel specifically test the SHOX gene.

More info about this panel

Leri-Weill dyschondrosteosis (deletion/duplication analysis of SHOX gene) Panel

Portugal.

By CGC Genetics

This panel specifically test the SHOX gene.

More info about this panel

Lysosomal and peroxisomal diseases (NGS panel of 109 genes) Panel

Portugal.

By CGC Genetics Lysosomal and peroxisomal diseases (NGS panel of 109 genes) that also includes the following genes: SC5D SCP2 SGSH SHOX SLC17A5 SMPD1 TCIRG1 ACOX1 ACP2 MCOLN1

More info about this panel

Lysosomal and peroxisomal diseases (NGS panel of 109 genes) Panel

Portugal.

By CGC Genetics Lysosomal and peroxisomal diseases (NGS panel of 109 genes) that also includes the following genes: SC5D SCP2 SGSH SHOX SLC17A5 SMPD1 TCIRG1 ACOX1 ACP2 MCOLN1

More info about this panel

Short stature Homeobox (SHOX)-related Haploinsufficiency Disorder via the SHOX Gene Panel

United States.

By PreventionGenetics PreventionGenetics

This panel specifically test the SHOX gene.

More info about this panel

Skeletal Disorders and Joint Problems Sequencing Panel with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics Skeletal Disorders and Joint Problems Sequencing Panel with CNV Detection that also includes the following genes: RMRP ROR2 RUNX2 SALL1 BMP1 BMP2 BMPR1B SF3B4 SH3BP2 FBXW4

More info about this panel

Short stature, idiopathic, X-linked Comprehensive Test Panel

United States.

By Connective Tissue Gene Tests

This panel specifically test the SHOX gene.

More info about this panel

Short stature, idiopathic, X-linked Sequencing Test Panel

United States.

By Connective Tissue Gene Tests

This panel specifically test the SHOX gene.

More info about this panel

Short stature, idiopathic, X-linked Deletion / Duplication Test Panel

United States.

By Connective Tissue Gene Tests

This panel specifically test the SHOX gene.

More info about this panel

Leri-Weill dyschondrosteosis Deletion / Duplication Test Panel

United States.

By Connective Tissue Gene Tests

This panel specifically test the SHOX gene.

More info about this panel

Leri-Weill dyschondrosteosis Sequencing Test Panel

United States.

By Connective Tissue Gene Tests

This panel specifically test the SHOX gene.

More info about this panel

Langer mesomelic dysplasia Deletion / Duplication Test Panel

United States.

By Connective Tissue Gene Tests

This panel specifically test the SHOX gene.

More info about this panel

Langer mesomelic dysplasia Comprehensive Test Panel

United States.

By Connective Tissue Gene Tests

This panel specifically test the SHOX gene.

More info about this panel

Leri-Weill dyschondrosteosis Comprehensive Test Panel

United States.

By Connective Tissue Gene Tests

This panel specifically test the SHOX gene.

More info about this panel

Langer mesomelic dysplasia Sequencing Test Panel

United States.

By Connective Tissue Gene Tests

This panel specifically test the SHOX gene.

More info about this panel

SHOX-Related Haploinsufficiency Disorders Panel

Germany.

By Bioscientia GmbH Center for Human Genetics

This panel specifically test the SHOX gene.

More info about this panel

Langer Mesomelic Dwarfism Panel

Germany.

By Bioscientia GmbH Center for Human Genetics

This panel specifically test the SHOX gene.

More info about this panel

SHOX deficiency Panel

Germany.

By Synlab MVZ Humane Genetik München Synlab MVZ Humane Genetik München

This panel specifically test the SHOX gene.

More info about this panel

Leri-Weill dyschondrosteosis - SHOX Panel

Czech Republic.

By DNA Diagnostics Laboratory University Hospital Ostrava

This panel specifically test the SHOX gene.

More info about this panel

Short stature Panel

Germany.

By Centogene AG - the Rare Disease Company

This panel specifically test the SHOX gene.

More info about this panel

SHOX deficiency Panel

Germany.

By bio.logis Center for Human Genetics Diagnosticum

This panel specifically test the SHOX gene.

More info about this panel

SHOX DELETION FISH Panel

Greece.

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

This panel specifically test the SHOX gene.

More info about this panel

SHOX-Related Haploinsufficiency Disorders Panel

Germany.

By MVZ Dortmund Dr. Eberhard & Partner

This panel specifically test the SHOX gene.

More info about this panel

SHOX, point mutations Panel

Chile.

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

This panel specifically test the SHOX gene.

More info about this panel

SHOX, deletions and duplications Panel

Chile.

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

This panel specifically test the SHOX gene.

More info about this panel

SHOX-Related Haploinsufficiency Disorders Panel

Germany.

By Labor-MVZ Westmecklenburg Laboratory for Molecular Diagnostics

This panel specifically test the SHOX gene.

More info about this panel

Langer mesomelic dysplasia Panel

Austria.

By Praxis fuer Humangenetik Wien

This panel specifically test the SHOX gene.

More info about this panel

Leri-Weill Dyschondrosteosis Panel

Austria.

By Praxis fuer Humangenetik Wien

This panel specifically test the SHOX gene.

More info about this panel

Short stature, idiopathic familial Panel

Austria.

By Praxis fuer Humangenetik Wien

This panel specifically test the SHOX gene.

More info about this panel

SHOX Panel

Austria.

By Division Human Genetics Medical University Innsbruck

This panel specifically test the SHOX gene.

More info about this panel

qChip Panel

Spain.

By Quantitative Genomic Medicine Laboratories, SL qChip that also includes the following genes: RS1 RUNX2 SALL1 SCN1A BMPR1A SH2D1A SEM1 SHH SHOX SIM1

More info about this panel

Langer mesomelic dysplasia Panel

Slovakia.

By MedGene

This panel specifically test the SHOX gene.

More info about this panel

Leri-Weill Dyschondrosteosis Panel

Slovakia.

By MedGene

This panel specifically test the SHOX gene.

More info about this panel

Short stature, idiopathic familial Panel

Slovakia.

By MedGene

This panel specifically test the SHOX gene.

More info about this panel

Leri-Weill dischondrosteosis: SHOX gene deletions-duplications analysis (MLPA) Panel

Spain.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases

This panel specifically test the SHOX gene.

More info about this panel

Leri-Weill dischondrosteosis: SHOX gene sequence analysis Panel

Spain.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases

This panel specifically test the SHOX gene.

More info about this panel

NOONAN, LEOPARD, COSTELLO and CARDIOFACIOCUTANEOUS SYNDROME Panel

Spain.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases NOONAN, LEOPARD, COSTELLO and CARDIOFACIOCUTANEOUS SYNDROME that also includes the following genes: RIT1 SHOX BRAF SOS1 SPRY2 SRC CD2AP GAB2 CBL SHOC2

More info about this panel

SHOX - Gene Sequencing & Del/Dup analysis Panel

Netherlands.

By Genome Diagnostics VU University Medical Center

This panel specifically test the SHOX gene.

More info about this panel

SHOX-Related Haploinsufficiency Disorders: SHOX Full Gene Sequencing Panel

United States.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics

This panel specifically test the SHOX gene.

More info about this panel

Proportionate Short Stature/Small for Gestational Age: Sequencing and Deletion/Duplication Panel Panel

United States.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Proportionate Short Stature/Small for Gestational Age: Sequencing and Deletion/Duplication Panel that also includes the following genes: ROR2 RPS6KA3 BLM SHOX SHOX2 SMARCAL1 SMC1A SOS1 SOX2 SOX3

More info about this panel

Disproportionate Short Stature: Sequencing Panel Panel

United States.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Disproportionate Short Stature: Sequencing Panel that also includes the following genes: ROR2 RUNX2 BMPR1B SHOX SLC26A2 SMARCAL1 SOX9 TBCE TBX6 TRIP11

More info about this panel

Skeletal Dysplasia: Sequencing Panel Panel

United States.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Skeletal Dysplasia: Sequencing Panel that also includes the following genes: ROR2 RUNX2 SALL1 BMP2 BMPR1B FBXW4 SHH SHOX SLC25A12 SLC26A2

More info about this panel

Disproportionate Short Stature: Deletion/Duplication Panel Panel

United States.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Disproportionate Short Stature: Deletion/Duplication Panel that also includes the following genes: ROR2 RUNX2 BMPR1B SHOX SLC26A2 SMARCAL1 SOX9 TBCE TRIP11 TRPS1

More info about this panel

X-chromosome High Resolution microarray analysis Panel

United States.

By Pittsburgh Cytogenetics Laboratory University of Pittsburgh Medical Center X-chromosome High Resolution microarray analysis that also includes the following genes: RP2 RPGR RPL10 RPS6KA3 RS1 SAT1 SH2D1A SHOX SLC16A2 SLC35A2

More info about this panel

Comprehensive Short Stature Syndrome Panel Panel

Finland.

By Blueprint Genetics Comprehensive Short Stature Syndrome Panel that also includes the following genes: RIT1 BCS1L RRAS SHOX BRAF SMC1A SOS1 SOX2 SOX3 STAT5B

More info about this panel

Skeletal Dysplasias Core Panel Panel

Finland.

By Blueprint Genetics Skeletal Dysplasias Core Panel that also includes the following genes: RMRP ROR2 RUNX2 BMP1 BMPR1B SHOX SLC26A2 SMARCAL1 SOX9 TCIRG1

More info about this panel

Comprehensive Skeletal Dysplasias and Disorders Panel Panel

Finland.

By Blueprint Genetics Comprehensive Skeletal Dysplasias and Disorders Panel that also includes the following genes: RMRP ROR2 BGN RUNX2 BMP1 BMP2 BMPR1B SF3B4 SH3BP2 SHOX

More info about this panel

Micromelic Dysplasia Panel Panel

Finland.

By Blueprint Genetics Micromelic Dysplasia Panel that also includes the following genes: ROR2 BMPR1B SHOX SOX9 TRIP11 TRPS1 WNT5A ADAMTS10 IFT122 ADAMTSL2

More info about this panel

Comprehensive Growth Disorders / Skeletal Dysplasias and Disorders Panel Panel

Finland.

By Blueprint Genetics Comprehensive Growth Disorders / Skeletal Dysplasias and Disorders Panel that also includes the following genes: RIT1 RMRP BCS1L ROR2 BGN RRAS RUNX2 BMP1 BMP2 SEC24D

More info about this panel

Shox-related short stature Panel

Spain.

By Bioarray

This panel specifically test the SHOX gene.

More info about this panel

Leri-Weill dyschondrosteosis Panel

Spain.

By Bioarray

This panel specifically test the SHOX gene.

More info about this panel

Shox-related short stature Panel

Spain.

By Bioarray

This panel specifically test the SHOX gene.

More info about this panel

Rapid microarray (CGH and SNP) Panel

United States.

By Allele Diagnostics Allele Diagnostics Rapid microarray (CGH and SNP) that also includes the following genes: RPS19 RUNX2 SALL1 SCN1A SCN2A SDHB SDHD BMPR1A SGCE SH2D1A

More info about this panel

High-Resolution Rapid Microarray (CGH and SNP) Panel

United States.

By Allele Diagnostics Allele Diagnostics High-Resolution Rapid Microarray (CGH and SNP) that also includes the following genes: RPS19 RUNX2 SALL1 SCN1A SCN2A SDHB SDHD BMPR1A SGCE SH2D1A

More info about this panel

LERI-WEILL SYNDROME Panel

Spain.

By Laboratorio de Genetica Clinica SL

This panel specifically test the SHOX gene.

More info about this panel

SHORT STATURE (IDIOPATHIC SHORT STATURE) Panel

Spain.

By Laboratorio de Genetica Clinica SL

This panel specifically test the SHOX gene.

More info about this panel

Leri-Weill Dyschondrosteosis , Sequencing SHOX Gene Panel

Spain.

By Reference Laboratory Genetics

This panel specifically test the SHOX gene.

More info about this panel

Leri-Weill Dyschondrosteosis , Deletions-Duplications (MLPA) SHOX Gene Panel

Spain.

By Reference Laboratory Genetics

This panel specifically test the SHOX gene.

More info about this panel

Leri-Weill dyschondrosteosis (LWD) Panel

Germany.

By Labor Dr. Wisplinghoff

This panel specifically test the SHOX gene.

More info about this panel

Langer mesomelic dysplasia Panel

Germany.

By Labor Dr. Wisplinghoff

This panel specifically test the SHOX gene.

More info about this panel

Short stature, idiopathic, X-linked, SHOX Panel

Germany.

By Labor Dr. Wisplinghoff

This panel specifically test the SHOX gene.

More info about this panel


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