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.

Click here to know more about Mendelian.

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.


Mendelian

Accelerate your rare disease diagnosis with us

Learn more

Crouzon Syndrome-acanthosis Nigricans Syndrome Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Achondroplasia Mutation Panel.

By Baylor Miraca Genetics Laboratories (United States).

FGFR3
Specificity
100 %
Genes
100 %
PreSeek Non-invasive Prenatal Gene Sequencing Screen.

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 %
Epilepsy Advanced Sequencing and CNV Evaluation - Developmental Brain Malformations.

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 %
Epilepsy Advanced Sequencing and CNV Evaluation.

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 %
Hearing Loss Advanced Sequencing and CNV Evaluation.

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 %
Non-immune Hydrops Panel.

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 %
NGS Skeletal Dysplasia Panel.

By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center (United States).

SLC26A2, SOX9, TRPV4, COL1A2, COMP, FGFR3, FLNA, HSPG2
Specificity
13 %
Genes
100 %
FGFR3-related disorders.

By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center (United States).

FGFR3
Specificity
100 %
Genes
100 %

We have 287 more panels available in our App

Get the app

Sources and references

You can check the following sources for additional information.

OMIM MESH ORPHANET Rare Disease Symptoms Checker

If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like MICROPHTHALMIA WITH LIMB ANOMALIES; MLA GLYCOGEN STORAGE DISEASE DUE TO LIVER GLYCOGEN PHOSPHORYLASE DEFICIENCY COMPLEMENT COMPONENT 2 DEFICIENCY; C2D NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE VI; HSAN6 BRAIN SMALL VESSEL DISEASE WITH OR WITHOUT OCULAR ANOMALIES; BSVD NASOPHARYNGEAL CARCINOMA

Need help with a diagnosis?

Learn more about how to achieve it with Mendelian


Learn more