Diaphanospondylodysostosis

Description

Diaphanospondylodysostosis is characterized by absent ossification of the vertebral bodies and sacrum associated with variable anomalies. It has been described in less than ten patients from different families. Manifestations include a short neck, a short wide thorax, a reduced number of ribs, a narrow pelvis, and inconstant anomalies such as myelomeningocele, cystic kidneys with nephrogenic rests, and cleft palate.

Clinical Features

Top most frequent phenotypes and symptoms related to Diaphanospondylodysostosis

  • Global developmental delay
  • Generalized hypotonia
  • Hypertelorism
  • Micrognathia
  • Muscular hypotonia
  • Cleft palate
  • Low-set ears
  • Depressed nasal bridge
  • Epicanthus
  • Intrauterine growth retardation

And another 44 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

Diaphanospondylodysostosis Is also known as vertebral ossification, defect in, with nephrogenic rests.

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.

Diaphanospondylodysostosis Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Renal Cystic Disorders Sequencing Panel.

By Genetic Services Laboratory University of Chicago (United States).

SALL1, SDCCAG8, HNF1B, TFAP2A, TSC1, TSC2, CEP41, UMOD, VHL, ARL6, NEK8, TMEM237, TRIM32, CDC73, INVS, CEP83, DCDC2, WDR19, CRB2, BBS7 , (...)

View the complete list with 55 more genes
Specificity
2 %
Genes
100 %
Diaphanospondylodysostosis via BMPER Gene Sequencing with CNV Detection.

By PreventionGenetics PreventionGenetics (United States).

BMPER
Specificity
100 %
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 %
Potentially lethal skeletal disorders Panel.

By CeGaT GmbH (Germany).

SLC26A2, SOX9, TRIP11, WNT7A, NSDHL, TRPV4, P3H1, CANT1, SLC35D1, COL11A1, COL11A2, COL1A2, FAM20C, CRTAP, BMPER, TCTN3, FAM111A, OFD1, WDR34, DHCR7 , (...)

View the complete list with 22 more genes
Specificity
3 %
Genes
100 %
BMPER.

By Fulgent Genetics Fulgent Genetics (United States).

BMPER
Specificity
100 %
Genes
100 %
Comprehensive Skeletal Dysplasias and Disorders Panel.

By Blueprint Genetics (Finland).

RMRP, ROR2, BGN, RUNX2, BMP1, BMP2, BMPR1B, SF3B4, SH3BP2, SHOX, SKI, SLCO2A1, SLC26A2, SMARCAL1, SMC1A, SOX9, TBX15, TBX3, TBX4, TBX6 , (...)

View the complete list with 223 more genes
Specificity
1 %
Genes
100 %
Comprehensive Growth Disorders / Skeletal Dysplasias and Disorders Panel.

By Blueprint Genetics (Finland).

RIT1, RMRP, BCS1L, ROR2, BGN, RRAS, RUNX2, BMP1, BMP2, SEC24D, BMPR1B, SF3B4, SH3BP2, SHOX, SKI, SLCO2A1, BRAF, SLC26A2, SMARCAL1, SMC1A , (...)

View the complete list with 284 more genes
Specificity
1 %
Genes
100 %

You can get up to -1 more panels with our dedicated tool

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Sources and references

You can check the following sources for additional information.

ORPHANET OMIM MESH Genetic Syndrome Finder

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