Costello Syndrome

Table of contents:

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

Description

Costello syndrome (CS) is a rare multisystemic disorder characterized by failure to thrive, short stature, developmental delay or intellectual disability, joint laxity, soft skin, and distinctive facial features. Cardiac and neurological involvement is common and there is an increased lifetime risk of certain tumors.

Genes related to Costello Syndrome

KRAS
HRAS
MAP2K2
BRAF
MAP2K1
PTPN11

View recommended genes panels

Clinical Features

Top most frequent phenotypes and symptoms related to Costello Syndrome

Intellectual disability
Seizures
Global developmental delay
Short stature
Generalized hypotonia
Scoliosis
Growth delay
Hypertelorism
Nystagmus
Neoplasm

And another 236 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

Costello Syndrome Is also known as fcs syndrome, faciocutaneoskeletal syndrome.

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.

Costello Syndrome Recommended genes panels

Panel Name, Specifity and genes Tested/covered
KRAS Sequence Analysis. By Baylor Miraca Genetics Laboratories (United States). KRAS Specificity 100 % Genes 17 %
KRAS Sequence Analysis (Familial Mutation/Variant Analysis). By Baylor Miraca Genetics Laboratories (United States). KRAS Specificity 100 % Genes 17 %
KRAS Sequence Analysis (Prenatal Diagnosis). By Baylor Miraca Genetics Laboratories (United States). KRAS Specificity 100 % Genes 17 %
PreSeek Non-invasive Prenatal Gene Sequencing Screen. By Baylor Miraca Genetics Laboratories (United States). RIT1, BRAF, SMC1A, SOS1, SOS2, CDKL5, SYNGAP1, TSC1, TSC2, HDAC8, NSD1, CBL, SHOC2, CHD7, COL1A2, SMC3, NIPBL, FGFR2, FGFR3, HRAS , (...) View the complete list with 9 more genes Panel complete gene list RIT1, BRAF, SMC1A, SOS1, SOS2, CDKL5, SYNGAP1, TSC1, TSC2, HDAC8, NSD1, CBL, SHOC2, CHD7, COL1A2, SMC3, NIPBL, FGFR2, FGFR3, HRAS, JAG1, KRAS, MAP2K1, MAP2K2, MECP2, NRAS, PTPN11, RAD21, RAF1 Specificity 21 % Genes 100 %
KRAS/RAF1/SOS1 DNA Sequencing Evaluation. By Athena Diagnostics Inc (United States). SOS1, KRAS, RAF1 Specificity 34 % Genes 17 %
KRAS DNA Sequencing Test. By Athena Diagnostics Inc (United States). KRAS Specificity 100 % Genes 17 %
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 7 % Genes 100 %
NGS RASopathy Panel. By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center (United States). RIT1, RRAS, BRAF, SOS1, SOS2, CBL, SHOC2, KAT6B, SPRED1, A2ML1, CABIN1, NSUN2, HRAS, KRAS, LZTR1, MAP2K1, MAP2K2, NF1, NF2, NRAS , (...) View the complete list with 3 more genes Panel complete gene list RIT1, RRAS, BRAF, SOS1, SOS2, CBL, SHOC2, KAT6B, SPRED1, A2ML1, CABIN1, NSUN2, HRAS, KRAS, LZTR1, MAP2K1, MAP2K2, NF1, NF2, NRAS, PTPN11, RAF1, RASA2 Specificity 27 % Genes 100 %

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Sources and references

You can check the following sources for additional information.

MESH OMIM ORPHANET Rare Disease Search Engine

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