Sclerosteosis 1; Sost1

Description

Sclerosteosis is a severe sclerosing bone dysplasia characterized by progressive skeletal overgrowth. Syndactyly is a variable manifestation. The disorder is rare and the majority of affected individuals have been reported in the Afrikaner population of South Africa (summary by Brunkow et al., 2001). Genetic Heterogeneity of SclerosteosisSclerosteosis-2 (SOST2 ) is caused by mutation in the LRP4 gene (OMIM ) on chromosome 11p11.2.

Clinical Features

Top most frequent phenotypes and symptoms related to Sclerosteosis 1; Sost1

  • Hearing impairment
  • Hypertelorism
  • Nystagmus
  • Strabismus
  • Sensorineural hearing impairment
  • Ptosis
  • Cognitive impairment
  • Depressed nasal bridge
  • Wide nasal bridge
  • Optic atrophy
And another 42 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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Sclerosteosis 1; Sost1 Recommended genes panels

Panel Name, Specifity and genes Tested/covered
MitoMet®Plus aCGH Analysis.

By Baylor Miraca Genetics Laboratories in United States.

BRCA1, MTHFR, UBE3A, VHL, MUTYH, TP53, MCCC1, MCCC2, AARS2, ABCB11, ABCB4, ABHD12, ACACA, ACAD9, ACADM, ACADS, AGL, ACADVL, ACAT1, ZNF513 , (...)

View the complete list with 617 more genes
Specificity
1 %
Genes
50 %
SOST Sequence Analysis (Prenatal Diagnosis).

By Baylor Miraca Genetics Laboratories in United States.

SOST
Specificity
100 %
Genes
50 %
SOST Sequence Analysis.

By Baylor Miraca Genetics Laboratories in United States.

SOST
Specificity
100 %
Genes
50 %
SOST Deletion/Duplication Analysis.

By Baylor Miraca Genetics Laboratories in United States.

SOST
Specificity
100 %
Genes
50 %
SOST Comprehensive - Sequence & Deletion/Duplication Analysis.

By Baylor Miraca Genetics Laboratories in United States.

SOST
Specificity
100 %
Genes
50 %
SOST. Complete sequencing.

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

SOST
Specificity
100 %
Genes
50 %
Sclerosteosis (sequence analysis of SOST gene).

By CGC Genetics in Portugal.

SOST
Specificity
100 %
Genes
50 %
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 %
Dense bone dysplasia NGS panel.

By Connective Tissue Gene Tests in United States.

ANKH, TYROBP, COL1A1, SOST, TGFB1, TNFRSF11B, GJA1, TBXAS1, LRP4, PTDSS1, HPGD, MTAP, DLX3, SLCO2A1
Specificity
15 %
Genes
100 %
Dense bone dysplasia Comprehensive panel.

By Connective Tissue Gene Tests in United States.

ANKH, TYROBP, COL1A1, SOST, TGFB1, TNFRSF11B, GJA1, TBXAS1, LRP4, PTDSS1, HPGD, MTAP, DLX3, SLCO2A1
Specificity
15 %
Genes
100 %
Dense bone dysplasia Deletion / Duplication panel.

By Connective Tissue Gene Tests in United States.

ANKH, TYROBP, COL1A1, SOST, TGFB1, TNFRSF11B, GJA1, TBXAS1, LRP4, PTDSS1, HPGD, MTAP, DLX3, SLCO2A1
Specificity
15 %
Genes
100 %
Osteopetrosis and Dense bone dysplasia Deletion / Duplication panel.

By Connective Tissue Gene Tests in United States.

ANKH, TYROBP, LRP5, COL1A1, SOST, TGFB1, LEMD3, TNFRSF11A, CLCN7, AMER1, CTSK, FAM20C, CA2, OSTM1, TNFSF11, TCIRG1, TNFRSF11B, GJA1, FERMT3, TBXAS1 , (...)

View the complete list with 8 more genes
Specificity
8 %
Genes
100 %
Osteopetrosis and Dense bone dysplasia NGS panel.

By Connective Tissue Gene Tests in United States.

ANKH, TYROBP, LRP5, COL1A1, SOST, TGFB1, LEMD3, TNFRSF11A, CLCN7, AMER1, CTSK, FAM20C, CA2, OSTM1, TNFSF11, TCIRG1, TNFRSF11B, GJA1, FERMT3, TBXAS1 , (...)

View the complete list with 8 more genes
Specificity
8 %
Genes
100 %
Osteopetrosis and Dense bone dysplasia Comprehensive panel.

By Connective Tissue Gene Tests in United States.

ANKH, TYROBP, LRP5, COL1A1, SOST, TGFB1, LEMD3, TNFRSF11A, CLCN7, AMER1, CTSK, FAM20C, CA2, OSTM1, TNFSF11, TCIRG1, TNFRSF11B, GJA1, FERMT3, TBXAS1 , (...)

View the complete list with 8 more genes
Specificity
8 %
Genes
100 %
Skeletal dysplasia with increased bone density Panel.

By CeGaT GmbH in Germany.

ANKH, LRP5, COL1A1, SOST, TGFB1, LEMD3, TNFRSF11A, CLCN7, AMER1, CTSK, FAM20C, CA2, OSTM1, TNFSF11, TCIRG1, TNFRSF11B, PTH1R, GJA1, DHCR24, TBXAS1 , (...)

View the complete list with 8 more genes
Specificity
8 %
Genes
100 %
Skeletal Dysplasia With Increased Bone Density: Sequencing Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

ANKH, TYROBP, LRP5, COL1A1, SOST, TGFB1, LEMD3, TNFRSF11A, CLCN7, CTSK, CA2, OSTM1, TNFSF11, TCIRG1, TNFRSF11B, FERMT3, TBXAS1, LRP4, GALNT3, HPGD , (...)

View the complete list with 2 more genes
Specificity
10 %
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
2 %
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
2 %
Genes
100 %
SOST.

By Fulgent Genetics Fulgent Genetics in United States.

SOST
Specificity
100 %
Genes
50 %
Osteopetrosis and Dense Bone Dysplasia Panel.

By Blueprint Genetics in Finland.

ANKH, TYROBP, LRP5, COL1A1, SOST, TGFB1, LEMD3, TNFRSF11A, CLCN7, AMER1, CTSK, FAM20C, CA2, OSTM1, TNFSF11, TCIRG1, TNFRSF11B, PTH1R, GJA1, SLC29A3 , (...)

View the complete list with 5 more genes
Specificity
8 %
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 %
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 %
Sclerosteosis 1.

By Bioarray in Spain.

SOST
Specificity
100 %
Genes
50 %
CRANIODIAPHYSEAL DYSPLASIA (CDD).

By Laboratorio de Genetica Clinica SL in Spain.

SOST
Specificity
100 %
Genes
50 %
HYPEROSTOSIS CORTICALIS GENERALISATA (VAN BUCHEM DISEASE).

By Laboratorio de Genetica Clinica SL in Spain.

LRP5, SOST
Specificity
50 %
Genes
50 %
SCLEROSTEOSIS (VAN BUCHEM DISEASE).

By Laboratorio de Genetica Clinica SL in Spain.

SOST
Specificity
100 %
Genes
50 %
Sclerosteosis Type 1, Sequencing SOST Gene.

By Reference Laboratory Genetics in Spain.

SOST
Specificity
100 %
Genes
50 %
SOST-Related Sclerosing Bone Dysplasias: gene sequencing.

By CEN4GEN Institute for Genomics and Molecular Diagnostics in Canada.

SOST
Specificity
100 %
Genes
50 %
Neuromuscular Disorders Sequencing Panel.

By Genetic Services Laboratory University of Chicago in United States.

GAA, GNE, TRIM32, CRYAB, VCP, DPM3, DPM1, ALG2, CHAT, PYGM, GBE1, DPAGT1, DMD, HRAS, CHRNE, DOK7, FKTN, NEB, SGCA, SGCB , (...)

View the complete list with 91 more genes
Specificity
1 %
Genes
50 %
Congenital Myasthenic Syndrome Sequencing Panel.

By Genetic Services Laboratory University of Chicago in United States.

ALG2, CHAT, DPAGT1, CHRNE, DOK7, RAPSN, SCN4A, COLQ, MUSK, GFPT1, AGRN, CHRNA1, CHRND, CHRNB1, SNAP25, COL13A1, SYT2, PREPL, LRP4, ALG14
Specificity
5 %
Genes
50 %
Congenital Myasthenic Syndrome Deletion/Duplication Panel.

By Genetic Services Laboratory University of Chicago in United States.

ALG2, CHAT, DPAGT1, CHRNE, DOK7, RAPSN, SCN4A, COLQ, MUSK, GFPT1, AGRN, CHRNA1, CHRND, CHRNB1, SNAP25, COL13A1, SYT2, PREPL, LRP4, ALG14
Specificity
5 %
Genes
50 %
Ataxia Exome Panel.

By Genetic Services Laboratory University of Chicago in United States.

FMR1, TTR, UBE3A, AARS2, ABHD12, PC, UQCRQ, UQCRB, HLCS, BTD, ATP7B, ATPAF2, AUH, BCKDHA, BCKDHB, BCS1L, TWNK, C12orf65, ADSL, PRKCG , (...)

View the complete list with 460 more genes
Specificity
1 %
Genes
50 %
Congenital Abnormalities of the Kidney and Urinary Tract (CAKUT) Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

EYA1, HNF1B, RET, PAX2, FGFR2, NIPBL, UMOD, SALL1, SIX5, SIX1, GATA3, MYH9, FOXP1, FAT4, GLI2, GLI3, SOX11, ACE, FREM1, BMP4 , (...)

View the complete list with 29 more genes
Specificity
3 %
Genes
50 %
Congenital Limb Malformation Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

BRCA2, RECQL4, COL2A1, CC2D2A, CEP290, SHH, DHODH, MKS1, FGFR3, FGFR2, NIPBL, PALB2, BRIP1, RAD51C, FIG4, FLNA, PIGV, SALL1, CHSY1, NSDHL , (...)

View the complete list with 49 more genes
Specificity
2 %
Genes
50 %
Hereditary kidney disorders - different panels.

By Institute of Human Genetics Cologne University in Germany.

VHL, ACAT1, ARG1, ATP7B, AUH, BCS1L, INVS, HNF1A, MMACHC, EYA1, LRP5, SLC34A1, WT1, PAX6, SDHAF2, HNF1B, RET, INPP5E, CPS1, GLB1 , (...)

View the complete list with 391 more genes
Specificity
1 %
Genes
50 %
Neurogenetic Disorders - panels.

By MGZ Medical Genetics Center in Germany.

MTHFR, TTR, UBE3A, AARS2, ABHD12, ACAD9, ACADM, ACADS, AGL, ACADVL, YARS2, PC, UQCRQ, ARG1, UQCRB, ATP5F1E, ATP7B, ATPAF2, AUH, BCKDHA , (...)

View the complete list with 577 more genes
Specificity
1 %
Genes
50 %
Congenital Myasthenic Syndrome (CMS).

By MGZ Medical Genetics Center in Germany.

ALG2, CHAT, DPAGT1, CHRNE, DOK7, RAPSN, COLQ, MUSK, GFPT1, AGRN, CHRNA1, CHRND, CHRNB1, SNAP25, PREPL, LRP4, ALG14
Specificity
6 %
Genes
50 %
Muscle Disease with Ptosis / External Ophthalmoplegia.

By MGZ Medical Genetics Center in Germany.

TWNK, TUBB3, POLG, SLC25A4, RRM2B, POLG2, ALG2, CHAT, KIF21A, DPAGT1, CHRNE, DOK7, RAPSN, DNM2, RYR1, MTM1, COLQ, MUSK, GFPT1, AGRN , (...)

View the complete list with 6 more genes
Specificity
4 %
Genes
50 %
Muscle Weakness (Myopathy, Muscular Dystrophy).

By MGZ Medical Genetics Center in Germany.

TTR, ACAD9, ACADM, ACADS, AGL, ACADVL, TWNK, GAA, TUBB3, AMACR, CPT2, GNE, TRIM32, POLG, SLC25A4, GARS, RRM2B, MFN2, CRYAB, HADHA , (...)

View the complete list with 159 more genes
Specificity
1 %
Genes
50 %
Congenital Myasthenic Syndromes and Arthrogryposis Panel.

By CeGaT GmbH in Germany.

FKBP10, PLOD2, ALG2, CHAT, DPAGT1, CHRNE, DOK7, RAPSN, DNM2, SCN4A, LAMB2, TPM2, SYNE1, PLEC, COLQ, MUSK, GFPT1, AGRN, CHRNA1, CHRND , (...)

View the complete list with 24 more genes
Specificity
3 %
Genes
50 %
Isolated limb hypoplasia and limb reduction defects: Split-hand/foot; Synostosis; isolated Brachydactyly; Polydactyly; Syndactyly Panel.

By CeGaT GmbH in Germany.

TRPV4, GLI3, TP63, BMPR1B, GJA1, HOXA11, ROR2, WNT7A, LRP4, HOXD13, PTHLH, GDF5, WNT10B, BMP2, BHLHA9, IHH, FBLN1, NOG, LMBR1, FGF16
Specificity
5 %
Genes
50 %
Limb Malformation: Sequencing Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

RECQL4, CC2D2A, CEP290, SHH, MKS1, FGFR3, FGFR2, NIPBL, PIGV, SALL1, CHSY1, SOX9, GLI3, TP63, CDH3, BMPR1B, PITX1, FGF10, SALL4, TBX5 , (...)

View the complete list with 26 more genes
Specificity
3 %
Genes
50 %
LRP4.

By Fulgent Genetics Fulgent Genetics in United States.

LRP4
Specificity
100 %
Genes
50 %
Sclerosteosis Type 2 , Massive Sequencing (NGS) LRP4 Gene.

By Reference Laboratory Genetics in Spain.

LRP4
Specificity
100 %
Genes
50 %

Alternate names

Sclerosteosis 1; Sost1 Is also known as sost, cortical hyperostosis with syndactyly;cortical hyperostosis-syndactyly syndrome.



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