Acrofacial Dysostosis, Cincinnati Type; Afdcin

Description

The Cincinnati type of acrofacial dysostosis is a ribosomopathy characterized by a spectrum of mandibulofacial dysostosis phenotypes, with or without extrafacial skeletal defects (Weaver et al., 2015).

Clinical Features

Top most frequent phenotypes and symptoms related to Acrofacial Dysostosis, Cincinnati Type; Afdcin

  • Short stature
  • Hearing impairment
  • Microcephaly
  • Micrognathia
  • Cleft palate
  • Low-set ears
  • Downslanted palpebral fissures
  • Malar flattening
  • Midface retrusion
  • Patent ductus arteriosus

And another 17 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.

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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Acrofacial Dysostosis, Cincinnati Type; Afdcin Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Craniofacial Del/Dup Panel.

By Division of Genomic Diagnostics The Children's Hospital of Philadelphia (United States).

RUNX2, SALL1, SF3B4, SIX1, SIX5, SKI, SNRPB, TCF12, TCOF1, TWIST1, ZIC1, IFT122, RAB23, ALX1, CD96, POLR1A, WDR19, EVC2, POLR1C, POLR1D , (...)

View the complete list with 22 more genes
Specificity
3 %
Genes
100 %
Craniofacial Seq + Del/Dup Panel.

By Division of Genomic Diagnostics The Children's Hospital of Philadelphia (United States).

RUNX2, SALL1, SF3B4, SIX1, SIX5, SKI, SNRPB, TCF12, TCOF1, TWIST1, ZIC1, IFT122, RAB23, ALX1, CD96, POLR1A, WDR19, EVC2, POLR1C, POLR1D , (...)

View the complete list with 22 more genes
Specificity
3 %
Genes
100 %
Craniofacial Seq Analysis.

By Division of Genomic Diagnostics The Children's Hospital of Philadelphia (United States).

RUNX2, SALL1, SF3B4, SIX1, SIX5, SKI, SNRPB, TCF12, TCOF1, TWIST1, ZIC1, IFT122, RAB23, ALX1, CD96, POLR1A, WDR19, EVC2, POLR1C, POLR1D , (...)

View the complete list with 22 more genes
Specificity
3 %
Genes
100 %
Treacher Collins syndrome and related disorders NGS panel.

By Connective Tissue Gene Tests (United States).

SF3B4, TCOF1, POLR1A, POLR1C, POLR1D, DHODH, TXNL4A, EFTUD2, EDNRA
Specificity
12 %
Genes
100 %
Treacher Collins syndrome and related disorders Deletion / Duplication panel.

By Connective Tissue Gene Tests (United States).

SF3B4, TCOF1, POLR1A, POLR1C, POLR1D, DHODH, TXNL4A, EFTUD2, EDNRA
Specificity
12 %
Genes
100 %
Treacher Collins syndrome and related disorders Comprehensive panel.

By Connective Tissue Gene Tests (United States).

SF3B4, TCOF1, POLR1A, POLR1C, POLR1D, DHODH, TXNL4A, EFTUD2, EDNRA
Specificity
12 %
Genes
100 %
POLR1A.

By Fulgent Genetics Fulgent Genetics (United States).

POLR1A
Specificity
100 %
Genes
100 %

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Sources and references

You can check the following sources for additional information.

OMIM 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 IMMUNODEFICIENCY 47; IMD47 LIPOMATOSIS, MULTIPLE SYMMETRIC; MSL BILIARY CIRRHOSIS, PRIMARY, 1; PBC1 ASTHMA, SUSCEPTIBILITY TO ENCEPHALOPATHY, FAMILIAL, WITH NEUROSERPIN INCLUSION BODIES; FENIB FOCAL FACIAL DERMAL DYSPLASIA 3, SETLEIS TYPE; FFDD3 AMELOGENESIS IMPERFECTA, TYPE IG; AI1G

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