Otofaciocervical Syndrome 2; Otfcs2

Description

Otofaciocervical syndrome (OTFCS) is a rare disorder characterized by facial anomalies, cup-shaped low-set ears, preauricular fistulas, hearing loss, branchial defects, skeletal anomalies including vertebral defects, low-set clavicles, winged scapulae, sloping shoulders, and mild intellectual disability (summary by Pohl et al., 2013).For a discussion of genetic heterogeneity of otofaciocervical syndrome, see OTFCS1 (OMIM ).

Clinical Features

Top most frequent phenotypes and symptoms related to Otofaciocervical Syndrome 2; Otfcs2

  • Intellectual disability
  • Hearing impairment
  • Low-set ears
  • Downslanted palpebral fissures
  • Abnormality of the skeletal system
  • Syndactyly
  • Clinodactyly
  • Retrognathia
  • Intellectual disability, moderate
  • Carious teeth

And another 15 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

Otofaciocervical Syndrome 2; Otfcs2 Is also known as ofc2.

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.

Otofaciocervical Syndrome 2; Otfcs2 Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Klippel-Feil Syndrome.

By Laboratory of Human Genetics GENOMED Health Care Center (Poland).

GDF3, GDF6, MEOX1, PAX1
Specificity
25 %
Genes
100 %
PAX1.

By Fulgent Genetics Fulgent Genetics (United States).

PAX1
Specificity
100 %
Genes
100 %
KLIPPEL-FEIL SYNDROME.

By Laboratorio de Genetica Clinica SL (Spain).

GDF3, GDF6, MEOX1, PAX1
Specificity
25 %
Genes
100 %
KLIPPEL-FEIL SYNDROME NGS PANEL.

By Laboratorio de Genetica Clinica SL (Spain).

MYO18B, RIPPLY2, GDF3, GDF6, MEOX1, PAX1
Specificity
17 %
Genes
100 %
Tempus xO assay.

By Tempus Labs, Inc. (United States).

BCL6, RHEB, RIPK1, RIPK2, RIPK3, RIT1, BCL7A, BCL9, BCR, ROBO2, ROCK1, ROCK2, ROR1, ROR2, ROS1, RPA1, BDNF, RPL5, RPN1, RPS6KB1 , (...)

View the complete list with 1627 more genes
Specificity
1 %
Genes
100 %

You can get up to -3 more panels with our dedicated tool

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Sources and references

You can check the following sources for additional information.

OMIM Rare Disease Search Engine

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