Mandibulofacial Dysostosis With Alopecia

Clinical Features

Top most frequent phenotypes and symptoms related to Mandibulofacial Dysostosis With Alopecia

  • Hearing impairment
  • Micrognathia
  • Abnormal facial shape
  • Cleft palate
  • Low-set ears
  • Wide nasal bridge
  • Abnormality of the dentition
  • Short nose
  • Depressivity
  • Alopecia

And another 23 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 With Alopecia Is also known as mfda.

Researches and researchers

Doctors, researchs, and experts related to Mandibulofacial Dysostosis With Alopecia extracted from public data.

Mandibulofacial Dysostosis With Alopecia Experts map



Current Researchs and researchers

  • PARIS — Pr Jeanne AMIEL

    Coordinator of expert centre - Clinical expert - Investigator of research project

    • Institution/s:
      — Institut Imagine - INSERM U1163, IMAGINE - Institut des Maladies Génétiques
      — CHU Paris - Hôpital Necker-Enfants Malades
    • Research area/topic::

      Homeotic transformation of the jaw and central respiratory disorders in Auriculo-Condylar syndrome



Mendelian

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Mandibulofacial Dysostosis With Alopecia Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Hearing Loss Advanced Sequencing and CNV Evaluation.

By Athena Diagnostics Inc (United States).

BCS1L, ROR1, SALL1, SEMA3E, SIX1, SIX5, SLC12A1, SLC19A2, SLC22A4, SNAI2, SMPX, SOX10, TBX1, TCOF1, TECTA, TFAP2A, TIMM8A, TJP2, TMPRSS3, USH1C , (...)

View the complete list with 149 more genes
Specificity
1 %
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 %
Mental Retardation and Dysmorphology - panels.

By MGZ Medical Genetics Center (Germany).

RIT1, ROR2, RPL10, RPS6KA3, RRAS, SALL1, SF3B4, SGSH, ST3GAL3, SLC16A2, BRAF, SLC6A8, SLC9A6, SNAI2, SMARCA2, SMARCA4, SMARCB1, SMARCE1, ARID1A, SMC1A , (...)

View the complete list with 322 more genes
Specificity
1 %
Genes
100 %
Syndromal Diseases - panels.

By MGZ Medical Genetics Center (Germany).

RIT1, ROR2, RPL10, RPS6KA3, RRAS, SALL1, SF3B4, SGSH, ST3GAL3, SLC16A2, BRAF, SLC6A8, SLC9A6, SNAI2, SMARCA2, SMARCA4, SMARCB1, SMARCE1, ARID1A, SMC1A , (...)

View the complete list with 321 more genes
Specificity
1 %
Genes
100 %
EDNRA.

By Fulgent Genetics Fulgent Genetics (United States).

EDNRA
Specificity
100 %
Genes
100 %
Otogenetics Hearing Loss and Deafness Multi-Gene NGS Panel.

By Otogenetics (United States).

BCS1L, SIX1, SIX5, SNAI2, SMPX, SOX2, TBL1X, TCF21, TECTA, TFCP2, TIMM8A, TJP2, TMPRSS3, FAS, USH1C, USH2A, CLRN1, WFS1, ACTB, ESPN , (...)

View the complete list with 108 more genes
Specificity
1 %
Genes
100 %

We have 0 more panels available in our App

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Sources and references

You can check the following sources for additional information.

ORPHANET OMIM Rare Disease Symptoms Checker

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