Laurin-sandrow Syndrome

Description

Laurin-Sandrow syndrome (LSS) is characterised by complete polysyndactyly of the hands, mirror feet and nose anomalies (hypoplasia of the nasal alae and short columella), often associated with ulnar and/or fibular duplication (and sometimes tibial agenesis). It has been described in less than 20 cases. Some cases with the same clinical signs but without nasal defects have also been reported, and may represent the same entity. The etiology of LSS is unknown. Different modes of inheritance have been suggested.

Clinical Features

Top most frequent phenotypes and symptoms related to Laurin-sandrow Syndrome

  • Intellectual disability
  • Hypertelorism
  • Muscular hypotonia
  • Cryptorchidism
  • Talipes equinovarus
  • Ventriculomegaly
  • Hydrocephalus
  • Syndactyly
  • Dilatation
  • Prominent forehead

And another 38 symptoms. If you need more information about this disease we can help you.

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Incidence and onset information

— Currently we don't have prevalence information about this disease (Not enough data available about incidence and published cases.)
No data available about the known clinical features onset.

Alternative names

Laurin-sandrow Syndrome Is also known as mirror hands and feets-nasal defects syndrome, tmip, mirror-image polydactyly, fibula and ulna, duplication of, with absence of tibia and radius, mip, mirror hands and feet with nasal defects, sandrow syndrome, tetramelic mirror-image polydactyly.

Researches and researchers

Currently, we don't have any information about doctors, researches or researchers related to this disease. Please contact us if you would like to appear here.


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Laurin-sandrow Syndrome Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Congenital Limb Malformation Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics (United States).

ROR2, SALL1, BMP2, BMPR1B, SF3B4, FBXW4, SHH, BRCA2, SOX9, TBX15, TBX3, TBX5, THPO, WNT3, WNT7A, LMBR1, NSDHL, HDAC4, SALL4, TP63 , (...)

View the complete list with 48 more genes
Specificity
2 %
Genes
100 %
Skeletal Disorders and Joint Problems Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics (United States).

RMRP, ROR2, RUNX2, SALL1, BMP1, BMP2, BMPR1B, SF3B4, SH3BP2, FBXW4, SHH, SHOX, SKI, SLCO2A1, SLC26A2, SMARCAL1, SMC1A, SOX9, SQSTM1, TBX15 , (...)

View the complete list with 236 more genes
Specificity
1 %
Genes
100 %
Mental Retardation and Dysmorphology - panels.

By MGZ Medical Genetics Center (Germany).

RIT1, ROR2, RPL10, RPS6KA3, RRAS, SALL1, SF3B4, SGSH, ST3GAL3, SLC16A2, BRAF, SLC6A8, SLC9A6, SNAI2, SMARCA2, SMARCA4, SMARCB1, SMARCE1, ARID1A, SMC1A , (...)

View the complete list with 322 more genes
Specificity
1 %
Genes
100 %
Syndromal Diseases - panels.

By MGZ Medical Genetics Center (Germany).

RIT1, ROR2, RPL10, RPS6KA3, RRAS, SALL1, SF3B4, SGSH, ST3GAL3, SLC16A2, BRAF, SLC6A8, SLC9A6, SNAI2, SMARCA2, SMARCA4, SMARCB1, SMARCE1, ARID1A, SMC1A , (...)

View the complete list with 321 more genes
Specificity
1 %
Genes
100 %
Isolated limb hypoplasia and limb reduction defects: Split-hand/foot; Synostosis; isolated Brachydactyly; Polydactyly; Syndactyly Panel.

By CeGaT GmbH (Germany).

ROR2, BMP2, BMPR1B, WNT10B, WNT7A, LMBR1, TP63, TRPV4, BHLHA9, FBLN1, FGF16, GDF5, GJA1, GLI3, HOXA11, HOXD13, IHH, LRP4, NOG, PTHLH
Specificity
5 %
Genes
100 %
Limb Malformation: Sequencing Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics (United States).

ROR2, SALL1, BMP2, BMPR1B, FBXW4, SHH, SOX9, TBX15, TBX3, TBX5, THPO, WNT3, WNT7A, LMBR1, HDAC4, SALL4, TP63, CHSY1, CDH3, GREM1 , (...)

View the complete list with 26 more genes
Specificity
3 %
Genes
100 %
Skeletal Dysplasia: Sequencing Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics (United States).

ROR2, RUNX2, SALL1, BMP2, BMPR1B, FBXW4, SHH, SHOX, SLC25A12, SLC26A2, SMARCAL1, SOX9, TBCE, TBX15, TBX3, TBX5, TBXAS1, TCIRG1, TGFB1, THPO , (...)

View the complete list with 141 more genes
Specificity
1 %
Genes
100 %
Skeletal Dysplasias NGS panel.

By Fulgent Genetics Fulgent Genetics (United States).

ROR2, RUNX2, SALL1, BMP2, BMPR1B, FBXW4, SHH, SLC25A12, SLC26A2, SMARCAL1, SOX9, TBCE, TBX15, TBX3, TBX5, TBXAS1, TCIRG1, TGFB1, THPO, TNFRSF11A , (...)

View the complete list with 139 more genes
Specificity
1 %
Genes
100 %

We have 4 more panels available in our App

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Sources and references

You can check the following sources for additional information.

OMIM MESH ORPHANET Rare Disease Symptoms Checker

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