Acrofacial Dysostosis, Cincinnati Type; Afdcin

Table of contents:

Description
Related genes
Clinical Features
Incidence and onset information
Alternative Names
Researches and researchers
Gene Panels
Sources and references

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).

Genes related to Acrofacial Dysostosis, Cincinnati Type; Afdcin

POLR1A

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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.

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 Panel complete gene list RUNX2, SALL1, SF3B4, SIX1, SIX5, SKI, SNRPB, TCF12, TCOF1, TWIST1, ZIC1, IFT122, RAB23, ALX1, CD96, POLR1A, WDR19, EVC2, POLR1C, POLR1D, CHD7, MIR17HG, DHODH, SPECC1L, WDR35, IFT43, EFTUD2, EFNB1, MEGF8, ERF, EVC, EYA1, GLI3, ALPL, ALX3, ALX4, MSX2, MYCN, PLCB4, POR, PRKAR1A, RECQL4 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 Panel complete gene list RUNX2, SALL1, SF3B4, SIX1, SIX5, SKI, SNRPB, TCF12, TCOF1, TWIST1, ZIC1, IFT122, RAB23, ALX1, CD96, POLR1A, WDR19, EVC2, POLR1C, POLR1D, CHD7, MIR17HG, DHODH, SPECC1L, WDR35, IFT43, EFTUD2, EFNB1, MEGF8, ERF, EVC, EYA1, GLI3, ALPL, ALX3, ALX4, MSX2, MYCN, PLCB4, POR, PRKAR1A, RECQL4 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 Panel complete gene list RUNX2, SALL1, SF3B4, SIX1, SIX5, SKI, SNRPB, TCF12, TCOF1, TWIST1, ZIC1, IFT122, RAB23, ALX1, CD96, POLR1A, WDR19, EVC2, POLR1C, POLR1D, CHD7, MIR17HG, DHODH, SPECC1L, WDR35, IFT43, EFTUD2, EFNB1, MEGF8, ERF, EVC, EYA1, GLI3, ALPL, ALX3, ALX4, MSX2, MYCN, PLCB4, POR, PRKAR1A, RECQL4 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.

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