Cofs Syndrome

Description

Cerebrooculofacioskeletal (COFS) syndrome is a rare genetic disorder, belonging to a family of diseases of DNA repair, characterized by a severe sensorineural involvement.

Clinical Features

Top most frequent phenotypes and symptoms related to Cofs Syndrome

  • Seizures
  • Short stature
  • Microcephaly
  • Micrognathia
  • Sensorineural hearing impairment
  • Muscular hypotonia
  • Cataract
  • Visual impairment
  • Peripheral neuropathy
  • Wide nasal bridge

And another 22 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.

Alternative names

Cofs Syndrome Is also known as cerebrooculofacioskeletal syndrome, pena-shokeir syndrome type 2.

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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Cofs Syndrome Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Congenital Contractures Panel.

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

SKI, SLC18A3, TNNI2, TNNT3, TPM2, TPM3, UBA1, ZMPSTE24, ACTA1, ADGRG6, SLC5A7, KLHL41, FKBP10, NEK9, NALCN, CHAT, CHRNA1, CHRNB1, CHRND, CHRNE , (...)

View the complete list with 37 more genes
Specificity
2 %
Genes
25 %
Dystonia.

By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University (United States).

SCP2, SGCE, SLC20A2, SLC2A1, SLC6A3, SPR, SUCLA2, SUOX, TAF1, TH, TIMM8A, TREX1, MCOLN1, FBXO7, CACNA1A, NPC2, PINK1, PANK2, SAMHD1, APTX , (...)

View the complete list with 57 more genes
Specificity
2 %
Genes
25 %
Movement Disorders Panel.

By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University (United States).

SCP2, SGCE, SLC20A2, SLC2A1, SLC6A3, SNCA, SPR, SQSTM1, SUCLA2, SUOX, TAF1, TH, TIMM8A, TREX1, MCOLN1, VPS35, FBXO7, CACNA1A, NPC2, PINK1 , (...)

View the complete list with 72 more genes
Specificity
2 %
Genes
25 %
Ataxia Exome Panel.

By Genetic Services Laboratory University of Chicago (United States).

BCS1L, RTN2, SACS, SCN1A, SCN2A, SCN8A, SCO1, SDHA, SDHD, SLC16A2, SLC17A5, SLC19A2, SLC1A3, SLC20A2, SLC2A1, SLC6A1, SLC9A1, SLC9A6, SNAP25, SOD1 , (...)

View the complete list with 457 more genes
Specificity
1 %
Genes
50 %
Autism/Intellectual Disability/Multiple Anomalies.

By Human Genetics Laboratory, Munroe-Meyer Institute University of Nebraska Medical Center (United States).

BDNF, RPS6KA3, SCN1A, BRAF, SLC2A1, SLC6A4, SLC9A6, SMC1A, KDM5C, SOS1, CDKL5, TCF4, MED12, TSC1, TSC2, UBE3A, HDAC8, CNTNAP2, FOXP2, CACNA1C , (...)

View the complete list with 69 more genes
Specificity
2 %
Genes
25 %
ERCC6. Complete sequencing.

By Instituto de Medicina Genomica Instituto de Medicina Genomica (Spain).

ERCC6
Specificity
100 %
Genes
25 %
Pena-Shokeir syndrome type 2 (sequence analysis of ERCC6 gene).

By CGC Genetics (Portugal).

ERCC6
Specificity
100 %
Genes
25 %
Cockayne syndrome B (sequence analysis of ERCC6 gene).

By CGC Genetics (Portugal).

ERCC6
Specificity
100 %
Genes
25 %

We have 129 more panels available in our App

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Sources and references

You can check the following sources for additional information.

ORPHANET Rare Disease Search Engine

If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like THREE M SYNDROME 3; 3M3 PEROXISOME BIOGENESIS DISORDER 8A (ZELLWEGER); PBD8A LIMB-MAMMARY SYNDROME; LMS MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE II; MOPD2 ACROMICRIC DYSPLASIA; ACMICD

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