Crisponi/cold-induced Sweating Syndrome 2; Ciss2

Description

Crisponi/cold-induced sweating syndrome is an autosomal recessive disorder characterized in the neonatal period by orofacial weakness with impaired sucking and swallowing resulting in poor feeding necessitating medical intervention. Affected infants show a tendency to startle, with contractions of the facial muscles in response to tactile stimuli or during crying, trismus, abundant salivation, and opisthotonus. During the first year, most infants have spiking fevers. These features, referred to as 'Crisponi syndrome' in infancy, can result in early death without advanced care. After the first 2 years, the abnormal muscle contractions and fevers abate, and most patients show normal psychomotor development. From childhood onward, the most disabling symptoms stem from impaired thermoregulation and disabling abnormal sweating, which can be treated with clonidine. Patients have hyperhidrosis, mainly of the upper body, in response to cold temperatures, and sweat very little with heat. Other features include characteristic facial anomalies, such as round face, chubby cheeks, micrognathia, high-arched palate, low-set ears, and depressed nasal bridge, dental decay, camptodactyly, and progressive kyphoscoliosis (summary by Hahn et al., 2010).For a discussion of genetic heterogeneity of Crisponi/cold-induced sweating syndrome, see CISS1 (OMIM ).

Clinical Features

Top most frequent phenotypes and symptoms related to Crisponi/cold-induced Sweating Syndrome 2; Ciss2

  • Scoliosis
  • Micrognathia
  • Muscle weakness
  • Pain
  • Low-set ears
  • Flexion contracture
  • High palate
  • Feeding difficulties
  • Depressed nasal bridge
  • Peripheral neuropathy

And another 34 symptoms. If you need more information about this disease we can help you.

Click here to know more about Mendelian.

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.


Mendelian

Accelerate your rare disease diagnosis with us

Learn more

Crisponi/cold-induced Sweating Syndrome 2; Ciss2 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
100 %
CLCF1.

By Fulgent Genetics Fulgent Genetics (United States).

CLCF1
Specificity
100 %
Genes
100 %
CRISPONI SYNDROME.

By Laboratorio de Genetica Clinica SL (Spain).

CLCF1, CRLF1
Specificity
50 %
Genes
100 %
COLD INDUCED SWEATING SYNDROME.

By Laboratorio de Genetica Clinica SL (Spain).

CLCF1, CRLF1
Specificity
50 %
Genes
100 %
Induced Sweating by Cold Syndrome including Crisponi Syndrome , Sequencing CLCF1 Gene.

By Reference Laboratory Genetics (Spain).

CLCF1
Specificity
100 %
Genes
100 %

We have -3 more panels available in our App

Get the app

Sources and references

You can check the following sources for additional information.

OMIM MESH Genetic Syndrome Finder

If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like SINGLETON-MERTEN SYNDROME 2; SGMRT2 MICROCEPHALY, SEIZURES, AND DEVELOPMENTAL DELAY; MCSZ MASA SYNDROME

Need help with a diagnosis?

Learn more about how to achieve it with Mendelian


Learn more