Costello Syndrome

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.

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.


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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
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
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
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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