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.
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
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Coordinator of expert centre - Clinical geneticist - Responsible for diagnostic tests - Investigator of research project - Director of laboratoryHALLE (SAALE) — Pr Katrin HOFFMANN
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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)
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Institution/s:
Greenberg Dysplasia Recommended genes panels
Panel Name, Specifity and genes Tested/covered |
---|
![]() 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 % |
![]() 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 % |
![]() 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 % |
![]() 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 % |
![]() 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 % |
![]() 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 % |
![]() By CGC Genetics (Portugal).
LBR
Specificity
100 %
Genes
100 % |
![]() By Laboratory Genetic Metabolic Diseases University of Amsterdam Academic Medical Center (Netherlands).
LBR
Specificity
100 %
Genes
100 % |
You can get up to 30 more panels with our dedicated tool
Learn moreSources and references
You can check the following sources for additional information.
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