Immunodeficiency-centromeric Instability-facial Anomalies Syndrome 3; Icf3

Description

Immunodeficiency-centromeric instability-facial anomalies syndrome-3 is an autosomal recessive disorder characterized by recurrent infections in childhood and variable dysmorphic facial features. Laboratory studies show hypomethylation of certain chromosomal regions. Additional features, including delayed development, are variable (summary by Thijssen et al., 2015).For a discussion of genetic heterogeneity of immunodeficiency-centromeric instability-facial anomalies syndrome, see ICF1 (OMIM ).

Clinical Features

Top most frequent phenotypes and symptoms related to Immunodeficiency-centromeric Instability-facial Anomalies Syndrome 3; Icf3

  • Intellectual disability
  • Global developmental delay
  • Hearing impairment
  • Microcephaly
  • Scoliosis
  • Growth delay
  • Hypertelorism
  • Strabismus
  • Abnormal facial shape
  • Cryptorchidism

And another 16 symptoms. If you need more information about this disease we can help you.

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Incidence and onset information

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.


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Immunodeficiency-centromeric Instability-facial Anomalies Syndrome 3; Icf3 Recommended genes panels

Panel Name, Specifity and genes Tested/covered
CDCA7.

By Fulgent Genetics Fulgent Genetics (United States).

CDCA7
Specificity
100 %
Genes
100 %
Primary Immunodeficiency Panel.

By Blueprint Genetics (Finland).

RMRP, RORC, CFB, BLM, SH2D1A, SLC7A7, SMARCAL1, SMARCD2, SRP72, BTK, STAT1, STAT2, STAT3, STAT5B, STIM1, STK4, STX11, STXBP2, TAPBP, TBX1 , (...)

View the complete list with 253 more genes
Specificity
1 %
Genes
100 %
ICF SYNDROME.

By Laboratorio de Genetica Clinica SL (Spain).

CDCA7, ZBTB24, DNMT3B, HELLS
Specificity
25 %
Genes
100 %

We have -5 more panels available in our App

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Sources and references

You can check the following sources for additional information.

OMIM Genetic Syndrome Finder

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