Crouzon Syndrome-acanthosis Nigricans Syndrome
Description
Crouzon syndrome with acanthosis nigricans (CAN) is a very rare, clinically heterogeneous form of faciocraniostenosis with Crouzon-like features and premature synostosis of cranial sutures (Crouzon disease, see this term), associated with acanthosis nigricans (AN; see this term).
Clinical Features
Top most frequent phenotypes and symptoms related to Crouzon Syndrome-acanthosis Nigricans Syndrome
- Short stature
- Hypertelorism
- Failure to thrive
- Strabismus
- Cleft palate
- Ptosis
- Feeding difficulties
- Visual impairment
- Brachydactyly
- Optic atrophy
And another 44 symptoms. If you need more information about this disease we can help you.
Incidence and onset information
— Based on the latest data available CROUZON SYNDROME-ACANTHOSIS NIGRICANS SYNDROME have a estimated birth prevalence of 0.1 per 100k in Europe.— No data available about the known clinical features onset.
Alternative names
Crouzon Syndrome-acanthosis Nigricans Syndrome Is also known as crouzon-dermoskeletal syndrome, crouzonodermoskeletal syndrome.
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.Crouzon Syndrome-acanthosis Nigricans Syndrome Recommended genes panels
Panel Name, Specifity and genes Tested/covered |
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![]() By Baylor Miraca Genetics Laboratories (United States).
FGFR3
Specificity
100 %
Genes
100 % |
![]() By Baylor Miraca Genetics Laboratories (United States).
RIT1, BRAF, SMC1A, SOS1, SOS2, CDKL5, SYNGAP1, TSC1, TSC2, HDAC8, NSD1, CBL, SHOC2, CHD7, COL1A2, SMC3, NIPBL, FGFR2, FGFR3, HRAS , (...)
View the complete list with 9 more genes
Specificity
4 %
Genes
100 % |
![]() By Athena Diagnostics Inc (United States).
SHH, STIL, SIX3, TUBA8, SLC25A19, DEAF1, ARFGEF2, RAB3GAP1, CENPJ, NDE1, FKRP, ARX, ASPM, POMGNT1, POMT2, TUBA1A, COL4A1, CPT2, WDR62, DCX , (...)
View the complete list with 20 more genes
Specificity
3 %
Genes
100 % |
![]() By Athena Diagnostics Inc (United States).
SCN1A, SCN1B, SCN2A, SCN3A, SCN5A, SCN8A, SCN9A, SHH, ST3GAL3, ST3GAL5, STIL, SIX3, SLC2A1, SLC35A2, SLC6A1, SLC6A8, SLC9A6, SMC1A, KDM5C, SMS , (...)
View the complete list with 214 more genes
Specificity
1 %
Genes
100 % |
![]() By Athena Diagnostics Inc (United States).
BCS1L, ROR1, SALL1, SEMA3E, SIX1, SIX5, SLC12A1, SLC19A2, SLC22A4, SNAI2, SMPX, SOX10, TBX1, TCOF1, TECTA, TFAP2A, TIMM8A, TJP2, TMPRSS3, USH1C , (...)
View the complete list with 149 more genes
Specificity
1 %
Genes
100 % |
![]() By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center (United States).
RIT1, RPL11, RPL35A, RPL5, RPS10, RPS17, RPS19, RPS24, RPS26, SEC23B, SLC17A5, BRAF, SMPD1, SOS1, SOS2, SOX18, UROS, CBL, SHOC2, ALG9 , (...)
View the complete list with 66 more genes
Specificity
2 %
Genes
100 % |
![]() By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center (United States).
SLC26A2, SOX9, TRPV4, COL1A2, COMP, FGFR3, FLNA, HSPG2
Specificity
13 %
Genes
100 % |
![]() By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center (United States).
FGFR3
Specificity
100 %
Genes
100 % |
You can get up to 287 more panels with our dedicated tool
Learn moreSources and references
You can check the following sources for additional information.
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