Crisponi Syndrome

Table of contents:

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

Description

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

Genes related to Crisponi Syndrome

CLCF1
CRLF1

View recommended genes panels

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.

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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