Blomstrand Lethal Chondrodysplasia

Table of contents:

Description
Related genes
Clinical Features
Incidence and onset information
Alternative Names
Researches and researchers
Gene Panels
Sources and references

Description

Blomstrand lethal chondrodysplasia (BLC) is a neonatal osteosclerotic dysplasia (see this term) characterized by advanced endochondral bone maturation, very short limbs, dwarfism and prenatal lethality.

Genes related to Blomstrand Lethal Chondrodysplasia

PTH1R

View recommended genes panels

Clinical Features

Top most frequent phenotypes and symptoms related to Blomstrand Lethal Chondrodysplasia

Micrognathia
Cataract
Low-set ears
Depressed nasal bridge
Anteverted nares
Edema
Short nose
Long philtrum
Malar flattening
Proptosis

And another 36 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.)
— The onset for some of the known clinical features related to this disease may vary, including congenital onset .

Alternative names

Blomstrand Lethal Chondrodysplasia Is also known as blomstrand chondrodysplasia, blomstrand osteochondrodysplasia, chondrodysplasia, blomstrand type, bocd, blc.

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.

Blomstrand Lethal Chondrodysplasia Recommended genes panels

Panel Name, Specifity and genes Tested/covered
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 Panel complete gene list RIT1, RPL11, RPL35A, RPL5, RPS10, RPS17, RPS19, RPS24, RPS26, SEC23B, SLC17A5, BRAF, SMPD1, SOS1, SOS2, SOX18, UROS, CBL, SHOC2, ALG9, CDAN1, KAT6B, ALG1, CHRNA1, CHRND, CHRNG, CANT1, KIAA0586, CLCNKA, CLCNKB, SUMF1, PEX26, FAT4, DHCR7, PIEZO1, WDR35, CCBE1, GNPTAB, FGFR3, FOXC2, G6PD, GALNS, GATA1, GBA, GBE1, GLA, GLB1, GUSB, HADHA, HADHB, HRAS, IDUA, FOXP3, KLF1, KIF23, KRAS, LBR, LIPA, LZTR1, MAP2K1, MAP2K2, MID1, KMT2D, ASAH1, MVK, NEU1, NPC1, NRAS, PEX1, PEX10, PEX12, PEX13, PEX14, PEX16, PEX3, PEX6, PIGA, PKLR, PMM2, CTSA, PTH1R, PTPN11, PEX19, PEX5, RAF1, RASA1 Specificity 2 % Genes 100 %
Hyperparathyroidism Deletion/Duplication Panel. By Genetic Services Laboratory University of Chicago (United States). CASR, CDC73, CDKN1B, GNA11, AP2S1, MEN1, PTH1R, RET Specificity 13 % Genes 100 %
Hyperparathyroidism Sequencing Panel. By Genetic Services Laboratory University of Chicago (United States). CASR, CDC73, CDKN1B, GNA11, AP2S1, MEN1, PTH1R, RET Specificity 13 % Genes 100 %
PTH1R mutation analysis. By Laboratory of genome diagnostics Academic Medical Center, University of Amsterdam (Netherlands). PTH1R Specificity 100 % Genes 100 %
PTH1R. Complete sequencing. By Instituto de Medicina Genomica Instituto de Medicina Genomica (Spain). PTH1R Specificity 100 % Genes 100 %
Eiken syndrome (sequence analysis of PTH1R gene). By CGC Genetics (Portugal). PTH1R Specificity 100 % 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 Panel complete gene list RMRP, SLC26A2, SOX9, TRIP11, NSDHL, TRPV4, P3H1, SBDS, SLC35D1, COL10A1, COL11A1, COL11A2, COL1A2, CRTAP, DDR2, EBP, FGFR3, FLNB, ALPL, HSPG2, INPPL1, LBR, LIFR, MMP13, MMP9, ARSE, PEX7, NKX3-2, PTH1R Specificity 4 % Genes 100 %
Blomstrand lethal chondrodysplasia (sequence analysis of PTH1R gene). By CGC Genetics (Portugal). PTH1R Specificity 100 % Genes 100 %

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Sources and references

You can check the following sources for additional information.

ORPHANET OMIM MESH Rare Disease Symptoms Checker

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