Schneckenbecken Dysplasia

Description

Schneckenbecken dysplasia (or chondrodysplasia with snail-like pelvis) is a prenatally lethal spondylodysplastic dysplasia.

Clinical Features

Top most frequent phenotypes and symptoms related to Schneckenbecken Dysplasia

  • Cleft palate
  • Cryptorchidism
  • Brachydactyly
  • Macrocephaly
  • Short neck
  • Edema
  • Malar flattening
  • Midface retrusion
  • Severe short stature
  • Polyhydramnios

And another 32 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.
No data available about the known clinical features onset.

Alternative names

Schneckenbecken Dysplasia Is also known as chondrodysplasia with snail-like pelvis, slc35d1-cdg, chondrodysplasia, lethal neonatal, with snail-like pelvis.

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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Schneckenbecken Dysplasia Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Opsismodysplasia (sequence analysis of INPPL1 gene).

By CGC Genetics (Portugal).

INPPL1
Specificity
100 %
Genes
50 %
Skeletal dysplasia (NGS panel for 31 genes).

By CGC Genetics (Portugal).

RMRP, SLC26A2, SOX9, TRIP11, NSDHL, TRPV4, P3H1, SBDS, SLC35D1, COL10A1, COL11A1, COL11A2, COL1A2, CRTAP, DDR2, EBP, FGFR3, FLNB, ALPL, HSPG2 , (...)

View the complete list with 9 more genes
Specificity
7 %
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 %
Spondylo-Epi-Metaphyseal dysplasias Deletion / Duplication panel.

By Connective Tissue Gene Tests (United States).

RMRP, BGN, RUNX2, SLC26A2, SMARCAL1, ACP5, CFAP410, CCN6, XYLT1, RAB33B, B3GALT6, TRPV4, NANS, SBDS, CHST3, CANT1, DYM, COL10A1, COL11A1, COL11A2 , (...)

View the complete list with 33 more genes
Specificity
2 %
Genes
50 %
Skeletal dysplasia core & extended Deletion / Duplication panel.

By Connective Tissue Gene Tests (United States).

RMRP, SLC26A2, SOX9, TRIP11, NSDHL, TRPV4, SBDS, SLC35D1, COL10A1, COL11A1, COL11A2, COL1A2, DDR2, EBP, FGFR3, FLNB, ALPL, HSPG2, INPPL1, LBR , (...)

View the complete list with 7 more genes
Specificity
8 %
Genes
100 %
Skeletal dysplasia core & extended Comprehensive panel.

By Connective Tissue Gene Tests (United States).

RMRP, SLC26A2, SOX9, TRIP11, NSDHL, TRPV4, SBDS, SLC35D1, COL10A1, COL11A1, COL11A2, COL1A2, DDR2, EBP, FGFR3, FLNB, ALPL, HSPG2, INPPL1, LBR , (...)

View the complete list with 7 more genes
Specificity
8 %
Genes
100 %
Skeletal dysplasia core Comprehensive panel.

By Connective Tissue Gene Tests (United States).

SLC26A2, SOX9, TRIP11, COL1A2, FGFR3, ALPL, INPPL1, NKX3-2
Specificity
13 %
Genes
50 %
Skeletal dysplasia core NGS panel.

By Connective Tissue Gene Tests (United States).

SLC26A2, SOX9, TRIP11, COL1A2, FGFR3, ALPL, INPPL1, NKX3-2
Specificity
13 %
Genes
50 %

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Sources and references

You can check the following sources for additional information.

MESH ORPHANET OMIM Rare Disease Search Engine

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