Skin Creases, Congenital Symmetric Circumferential, 2; Cscsc2

Description

Congenital symmetric circumferential skin creases is characterized by the folding of excess skin, which leads to ringed creases, primarily of the limbs. Affected individuals also exhibit intellectual disability, cleft palate, and dysmorphic features (summary by Isrie et al., 2015).For a discussion of genetic heterogeneity of congenital symmetric circumferential skin creases, see CSCSC1 (OMIM ).

Clinical Features

Top most frequent phenotypes and symptoms related to Skin Creases, Congenital Symmetric Circumferential, 2; Cscsc2

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Hearing impairment
  • Microcephaly
  • Hypertelorism
  • Micrognathia
  • Cleft palate

And another 34 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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Skin Creases, Congenital Symmetric Circumferential, 2; Cscsc2 Recommended genes panels

Panel Name, Specifity and genes Tested/covered
MAPRE2.

By Fulgent Genetics Fulgent Genetics (United States).

MAPRE2
Specificity
100 %
Genes
100 %

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Sources and references

You can check the following sources for additional information.

OMIM Rare Disease Symptoms Checker

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