Greenberg Dysplasia

Description

Greenberg dysplasia is a very rare lethal skeletal dysplasia characterized by fetal hydrops, short limbs and abnormal chondro-osseous calcification. The disease is characterized by early in utero lethality and affected fetuses are considered as nonviable.

Clinical Features

Top most frequent phenotypes and symptoms related to Greenberg Dysplasia

  • Hypertelorism
  • Micrognathia
  • Low-set ears
  • Depressed nasal bridge
  • Hepatomegaly
  • Brachydactyly
  • Macrocephaly
  • Edema
  • Splenomegaly
  • Malar flattening

And another 88 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

Greenberg Dysplasia Is also known as skeletal dysplasia, greenberg type, hem dysplasia, moth-eaten skeletal dysplasia, hem skeletal dysplasia, hydrops-ectopic calcification-motheaten syndrome, hydrops-ectopic calcification-moth-eaten skeletal dysplasia, chondrodystrophy, hydropic and prenatally le.

Researches and researchers

Doctors, researchs, and experts related to Greenberg Dysplasia extracted from public data.

Greenberg Dysplasia Experts map



Current Researchs and researchers

  • HALLE (SAALE) — Pr Katrin HOFFMANN

    Coordinator of expert centre - Clinical geneticist - Responsible for diagnostic tests - Investigator of research project - Director of laboratory

    • Institution/s:
      — Institut für Humangenetik der Martin-Luther-Universität Halle Wittenberg
    • Research area/topic::

      Analysis of phenotypic and functional variances of lamin B receptor mutations (SFB 577)



Mendelian

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Greenberg Dysplasia Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Epilepsy Advanced Sequencing and CNV Evaluation.

By Athena Diagnostics Inc (United States).

SCN1A, SCN1B, SCN2A, SCN3A, SCN5A, SCN8A, SCN9A, SHH, ST3GAL3, ST3GAL5, STIL, SIX3, SLC2A1, SLC35A2, SLC6A1, SLC6A8, SLC9A6, SMC1A, KDM5C, SMS , (...)

View the complete list with 214 more genes
Specificity
1 %
Genes
100 %
Epilepsy Advanced Sequencing and CNV Evaluation - Syndromic Disorders.

By Athena Diagnostics Inc (United States).

SYNGAP1, TBX1, TSC1, TSC2, SETBP1, PANK2, ADGRV1, ATP6V0A2, MAGI2, VPS13A, ANKRD11, VPS13B, KIF1BP, KANSL1, SMC3, PIGV, NIPBL, ROGDI, GFAP, HPRT1 , (...)

View the complete list with 11 more genes
Specificity
4 %
Genes
100 %
Non-immune Hydrops Panel.

By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center (United States).

RIT1, RPL11, RPL35A, RPL5, RPS10, RPS17, RPS19, RPS24, RPS26, SEC23B, SLC17A5, BRAF, SMPD1, SOS1, SOS2, SOX18, UROS, CBL, SHOC2, ALG9 , (...)

View the complete list with 66 more genes
Specificity
2 %
Genes
100 %
Skeletal Dysplasia Panel, Sequencing and Deletion/Duplication.

By ARUP Laboratories, Molecular Genetics and Genomics (United States).

RUNX2, SLC26A2, SOX9, TRIP11, SERPINH1, TRPV4, FKBP10, WDR19, P3H1, EVC2, SLC35D1, COL1A2, COMP, CRTAP, TTC21B, DLL3, WDR35, IFT80, DYNC2H1, EBP , (...)

View the complete list with 17 more genes
Specificity
3 %
Genes
100 %
Skeletal Dysplasia Panel, Sequencing and Deletion/Duplication, Fetal.

By ARUP Laboratories, Molecular Genetics and Genomics (United States).

RUNX2, SLC26A2, SOX9, TRIP11, SERPINH1, TRPV4, FKBP10, WDR19, P3H1, EVC2, SLC35D1, COL1A2, COMP, CRTAP, TTC21B, DLL3, WDR35, IFT80, DYNC2H1, EBP , (...)

View the complete list with 17 more genes
Specificity
3 %
Genes
100 %
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
4 %
Genes
100 %
Greenberg dysplasia (sequence analysis of LBR gene).

By CGC Genetics (Portugal).

LBR
Specificity
100 %
Genes
100 %
Greenberg Dysplasia.

By Laboratory Genetic Metabolic Diseases University of Amsterdam Academic Medical Center (Netherlands).

LBR
Specificity
100 %
Genes
100 %

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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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