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 ).
Genes related to Skin Creases, Congenital Symmetric Circumferential, 2; Cscsc2
- MAPRE2
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.
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.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 % |
You can get up to -7 more panels with our dedicated tool
Learn moreSources and references
You can check the following sources for additional information.
OMIM Rare Disease Symptoms CheckerIf you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like THROMBOTIC THROMBOCYTOPENIC PURPURA, CONGENITAL; TTP