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.
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 |
---|
![]() By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases (Spain).
CLCF1
Specificity
100 %
Genes
50 % |
![]() By Fulgent Genetics Fulgent Genetics (United States).
CLCF1
Specificity
100 %
Genes
50 % |
![]() By Laboratorio de Genetica Clinica SL (Spain).
CLCF1, CRLF1
Specificity
100 %
Genes
100 % |
![]() By Laboratorio de Genetica Clinica SL (Spain).
CLCF1, CRLF1
Specificity
100 %
Genes
100 % |
![]() By Reference Laboratory Genetics (Spain).
CLCF1
Specificity
100 %
Genes
50 % |
![]() By Bioscientia GmbH Center for Human Genetics (Germany).
CRLF1
Specificity
100 %
Genes
50 % |
![]() By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases (Spain).
CRLF1
Specificity
100 %
Genes
50 % |
![]() By Fulgent Genetics Fulgent Genetics (United States).
CRLF1
Specificity
100 %
Genes
50 % |
You can get up to 1 more panels with our dedicated tool
Learn moreSources and references
You can check the following sources for additional information.
ORPHANET Rare Disease Symptoms CheckerIf you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like EPIPHYSEAL DYSPLASIA, MULTIPLE, 1; EDM1 COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 5; HNPCC5 ERYTHRODERMA, CONGENITAL, WITH PALMOPLANTAR KERATODERMA, HYPOTRICHOSIS, AND HYPER-IgE; EPKHE LONG QT SYNDROME 1; LQT1