Mandibulofacial Dysostosis-microcephaly Syndrome

Table of contents:

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

Description

Mandibulofacial dysostosis-microcephaly syndrome is a rare genetic multiple malformation disorder characterized by malar and mandibular hypoplasia, microcephaly, ear malformations with associated conductive hearing loss, distinctive facial dysmorphism, developmental delay, and intellectual disability.

Genes related to Mandibulofacial Dysostosis-microcephaly Syndrome

EFTUD2

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Clinical Features

Top most frequent phenotypes and symptoms related to Mandibulofacial Dysostosis-microcephaly Syndrome

Intellectual disability
Seizures
Global developmental delay
Short stature
Hearing impairment
Microcephaly
Growth delay
Micrognathia
Abnormal facial shape
Cleft palate

And another 66 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

Mandibulofacial Dysostosis-microcephaly Syndrome Is also known as mfdm syndrome, growth and mental retardation, mandibulofacial dysostosis, microcephaly, and cleft palate, mfdm, mandibulofacial dysostosis, guion-almeida type, mandibulofacial dysostosis with microcephaly.

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.

Mandibulofacial Dysostosis-microcephaly Syndrome Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Mandibulofacial Dysostosis with Microcephaly Sequencing (EFTUD2). By Children's Hospital Colorado Molecular Genetics Laboratory Children's Hospital Colorado (United States). EFTUD2 Specificity 100 % Genes 100 %
Mandibulofacial Dysostosis with Microcephaly Deletion/Duplication Analysis (EFTUD2). By Children's Hospital Colorado Molecular Genetics Laboratory Children's Hospital Colorado (United States). EFTUD2 Specificity 100 % Genes 100 %
Microcephaly Sequencing Panel. By Genetic Services Laboratory University of Chicago (United States). STIL, SLC2A1, SLC9A6, PLK4, CDKL5, TCF4, UBE3A, WWOX, RAB18, CRIPT, SLC25A19, ZEB2, CASK, TSEN34, ZNF335, ARFGEF2, PCNT, TBC1D20, TUBGCP4, STAMBP , (...) View the complete list with 50 more genes Panel complete gene list STIL, SLC2A1, SLC9A6, PLK4, CDKL5, TCF4, UBE3A, WWOX, RAB18, CRIPT, SLC25A19, ZEB2, CASK, TSEN34, ZNF335, ARFGEF2, PCNT, TBC1D20, TUBGCP4, STAMBP, RAB3GAP1, ORC6, RAB3GAP2, CENPJ, CDC6, NDE1, CDK6, SPATA5, TUBGCP6, IER3IP1, CENPE, CENPF, CDK5RAP2, ASPM, KIF1BP, MED17, KNL1, WDR62, CDT1, CTNNB1, SASS6, NHEJ1, CEP63, MFSD2A, TSEN54, TRMT10A, TSEN2, CEP135, CEP152, ASXL3, PYCR2, TRAPPC9, EFTUD2, DYRK1A, PHC1, FOXG1, KATNB1, KIF11, LIG4, MCPH1, MECP2, NBN, ORC1, ORC4, ATR, ATRX, PNKP, PQBP1, QARS, RBBP8 Specificity 2 % Genes 100 %
Microcephaly Deletion/Duplication Panel. By Genetic Services Laboratory University of Chicago (United States). STIL, SLC1A4, SLC2A1, SLC9A6, SOX11, PLK4, CDKL5, TCF4, UBE3A, USP18, WWOX, RAB18, CRIPT, SLC25A19, ZEB2, NIN, PPP1R15B, CASK, TSEN34, ZNF335 , (...) View the complete list with 59 more genes Panel complete gene list STIL, SLC1A4, SLC2A1, SLC9A6, SOX11, PLK4, CDKL5, TCF4, UBE3A, USP18, WWOX, RAB18, CRIPT, SLC25A19, ZEB2, NIN, PPP1R15B, CASK, TSEN34, ZNF335, ARFGEF2, PCNT, TBC1D20, TUBGCP4, STAMBP, RAB3GAP1, ORC6, RAB3GAP2, CENPJ, CDC6, NDE1, CDK6, SPATA5, TUBGCP6, IER3IP1, CENPE, CENPF, CDK5RAP2, ASPM, CIT, KIF1BP, MED17, KNL1, WDR62, CDT1, CTNNB1, SASS6, NHEJ1, CEP63, MFSD2A, TSEN54, TRMT10A, TSEN2, DIAPH1, CEP135, CEP152, ASXL3, PYCR2, TRAPPC9, EFTUD2, DYRK1A, PHC1, EIF2S3, AGMO, FOXG1, KATNB1, KIF11, LIG4, MCPH1, MECP2, NBN, ORC1, ORC4, ATR, ATRX, PNKP, PQBP1, QARS, RBBP8 Specificity 2 % Genes 100 %
Facial Dysostosis Sequencing Panel. By Genetic Services Laboratory University of Chicago (United States). SF3B4, TCOF1, ALX1, EVC2, POLR1C, POLR1D, CHD7, DHODH, ZSWIM6, EFTUD2, EFNB1, EVC, ALX3, ALX4, MYCN, PDE4D, PRKAR1A Specificity 6 % Genes 100 %
EFTUD2. Complete sequencing. By Instituto de Medicina Genomica Instituto de Medicina Genomica (Spain). EFTUD2 Specificity 100 % Genes 100 %
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 %

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Sources and references

You can check the following sources for additional information.

OMIM MESH ORPHANET Rare Disease Symptoms Checker

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