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.
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
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
Search interest in SHOX
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 United States.
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 United States.
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 United States.
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 United States.
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 Spain.
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 Spain.
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 Spain.
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 Spain.
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 United States.
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 United States.
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 United States.
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 Portugal.
Short Stature (sequence analysis of SHOX gene) Panel
Portugal.
By CGC Genetics
This panel specifically test the SHOX gene.
More info about this panel Portugal.
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 Portugal.
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 Portugal.
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 Portugal.
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 Portugal.
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 United States.
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 United States.
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 United States.
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 United States.
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 United States.
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 United States.
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 United States.
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 United States.
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 United States.
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 United States.
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 United States.
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 Germany.
Langer Mesomelic Dwarfism Panel
Germany.
By Bioscientia GmbH Center for Human Genetics
This panel specifically test the SHOX gene.
More info about this panel Germany.
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 Germany.
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 Czech Republic.
Short stature Panel
Germany.
By Centogene AG - the Rare Disease Company
This panel specifically test the SHOX gene.
More info about this panel Germany.
SHOX deficiency Panel
Germany.
By bio.logis Center for Human Genetics Diagnosticum
This panel specifically test the SHOX gene.
More info about this panel Germany.
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 Greece.
SHOX-Related Haploinsufficiency Disorders Panel
Germany.
By MVZ Dortmund Dr. Eberhard & Partner
This panel specifically test the SHOX gene.
More info about this panel Germany.
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 Chile.
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 Chile.
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 Germany.
Langer mesomelic dysplasia Panel
Austria.
By Praxis fuer Humangenetik Wien
This panel specifically test the SHOX gene.
More info about this panel Austria.
Leri-Weill Dyschondrosteosis Panel
Austria.
By Praxis fuer Humangenetik Wien
This panel specifically test the SHOX gene.
More info about this panel Austria.
Short stature, idiopathic familial Panel
Austria.
By Praxis fuer Humangenetik Wien
This panel specifically test the SHOX gene.
More info about this panel Austria.
SHOX Panel
Austria.
By Division Human Genetics Medical University Innsbruck
This panel specifically test the SHOX gene.
More info about this panel Austria.
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 Spain.
Langer mesomelic dysplasia Panel
Slovakia.
By MedGene
This panel specifically test the SHOX gene.
More info about this panel Slovakia.
Leri-Weill Dyschondrosteosis Panel
Slovakia.
By MedGene
This panel specifically test the SHOX gene.
More info about this panel Slovakia.
Short stature, idiopathic familial Panel
Slovakia.
By MedGene
This panel specifically test the SHOX gene.
More info about this panel Slovakia.
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 Spain.
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 Spain.
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 Spain.
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 Netherlands.
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 United States.
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 United States.
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 United States.
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 United States.
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 United States.
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 United States.
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 Finland.
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 Finland.
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 Finland.
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 Finland.
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 Finland.
Shox-related short stature Panel
Spain.
By Bioarray
This panel specifically test the SHOX gene.
More info about this panel Spain.
Leri-Weill dyschondrosteosis Panel
Spain.
By Bioarray
This panel specifically test the SHOX gene.
More info about this panel Spain.
Shox-related short stature Panel
Spain.
By Bioarray
This panel specifically test the SHOX gene.
More info about this panel Spain.
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 United States.
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 United States.
LERI-WEILL SYNDROME Panel
Spain.
By Laboratorio de Genetica Clinica SL
This panel specifically test the SHOX gene.
More info about this panel Spain.
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 Spain.
Leri-Weill Dyschondrosteosis , Sequencing SHOX Gene Panel
Spain.
By Reference Laboratory Genetics
This panel specifically test the SHOX gene.
More info about this panel Spain.
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 Spain.
Leri-Weill dyschondrosteosis (LWD) Panel
Germany.
By Labor Dr. Wisplinghoff
This panel specifically test the SHOX gene.
More info about this panel Germany.
Langer mesomelic dysplasia Panel
Germany.
By Labor Dr. Wisplinghoff
This panel specifically test the SHOX gene.
More info about this panel Germany.
Short stature, idiopathic, X-linked, SHOX Panel
Germany.
By Labor Dr. Wisplinghoff
This panel specifically test the SHOX gene.
More info about this panel Germany.
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