Crisponi Syndrome

Description

Crisponi syndrome (CS) is a severe disorder characterized by muscular contractions at birth, intermittent hyperthermia, facial abnormalities and camptodactyly.

Clinical Features

Top most frequent phenotypes and symptoms related to Crisponi Syndrome

  • Seizures
  • Scoliosis
  • Micrognathia
  • Cognitive impairment
  • Flexion contracture
  • High palate
  • Feeding difficulties
  • Anteverted nares
  • Respiratory insufficiency
  • Hypertonia

And another 12 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.

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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Crisponi Syndrome Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Cold-Induced sweating syndrome including Crisponi syndrome: CLCF1 gene sequence analysis.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases (Spain).

CLCF1
Specificity
100 %
Genes
50 %
CLCF1.

By Fulgent Genetics Fulgent Genetics (United States).

CLCF1
Specificity
100 %
Genes
50 %
CRISPONI SYNDROME.

By Laboratorio de Genetica Clinica SL (Spain).

CLCF1, CRLF1
Specificity
100 %
Genes
100 %
COLD INDUCED SWEATING SYNDROME.

By Laboratorio de Genetica Clinica SL (Spain).

CLCF1, CRLF1
Specificity
100 %
Genes
100 %
Induced Sweating by Cold Syndrome including Crisponi Syndrome , Sequencing CLCF1 Gene.

By Reference Laboratory Genetics (Spain).

CLCF1
Specificity
100 %
Genes
50 %
CRLF1-Related Cold-Induced Sweating Syndrome including Crisponi Syndrome.

By Bioscientia GmbH Center for Human Genetics (Germany).

CRLF1
Specificity
100 %
Genes
50 %
Cold-Induced sweating syndrome including Crisponi syndrome: CRLF1 gene sequence analysis.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases (Spain).

CRLF1
Specificity
100 %
Genes
50 %
CRLF1.

By Fulgent Genetics Fulgent Genetics (United States).

CRLF1
Specificity
100 %
Genes
50 %

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Sources and references

You can check the following sources for additional information.

ORPHANET Rare Disease Symptoms Checker

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