Gorlin-chaudhry-moss Syndrome

Description

Gorlin-Chaudhry-Moss (GCM) syndrome is a multiple congenital anomaly syndrome characterized by craniofacial dysostosis, facial dysmorphism, conductive hearing loss, generalized hypertrichosis, and extremity, ocular and dental anomalies.

Clinical Features

Top most frequent phenotypes and symptoms related to Gorlin-chaudhry-moss Syndrome

  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Hearing impairment
  • Microcephaly
  • Scoliosis
  • Growth delay
  • Hypertelorism
  • Nystagmus
  • Failure to thrive

And another 116 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.)
— The onset for some of the known clinical features related to this disease may vary, including congenital onset, congenital onset, congenital onset, congenital onset, and congenital onset .

Alternative names

Gorlin-chaudhry-moss Syndrome Is also known as gcm syndrome, gorlin-chaudhry-moss syndrome, craniofacial dysostosis, hypertrichosis, hypoplasia of labia majora, dental and eye anomalies, patent ductus arteriosus, and normal intelligence, craniofacial dysostosis-genital, dental, cardiac anomalies syndrome.

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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Gorlin-chaudhry-moss Syndrome Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Craniosynostosis Deletion / Duplication panel.

By Connective Tissue Gene Tests (United States).

SKI, TCF12, TGFBR1, TGFBR2, TWIST1, ZIC1, IFT122, RAB23, CDC45, WDR19, CYP26B1, SLC25A24, FREM1, WDR35, IFT43, EFNB1, MEGF8, ERF, FGFR1, FGFR2 , (...)

View the complete list with 6 more genes
Specificity
4 %
Genes
100 %
Craniosynostosis Comprehensive panel.

By Connective Tissue Gene Tests (United States).

SKI, TCF12, TGFBR1, TGFBR2, TWIST1, ZIC1, IFT122, RAB23, CDC45, WDR19, CYP26B1, SLC25A24, FREM1, WDR35, IFT43, EFNB1, MEGF8, ERF, FGFR1, FGFR2 , (...)

View the complete list with 6 more genes
Specificity
4 %
Genes
100 %
Craniosynostosis NGS panel.

By Connective Tissue Gene Tests (United States).

SKI, TCF12, TGFBR1, TGFBR2, TWIST1, ZIC1, IFT122, RAB23, CDC45, WDR19, CYP26B1, SLC25A24, FREM1, WDR35, IFT43, EFNB1, MEGF8, ERF, FGFR1, FGFR2 , (...)

View the complete list with 6 more genes
Specificity
4 %
Genes
100 %
Progeroid syndromes and related disorders NGS panel.

By Connective Tissue Gene Tests (United States).

WRN, ZMPSTE24, BSCL2, BANF1, B3GALT6, SLC25A24, AGPAT2, ERCC2, ERCC3, ERCC4, ERCC5, ERCC6, ERCC8, FBN1, LMNA, PDGFRB, POLD1, B4GALT7, PYCR1, ALDH18A1 , (...)

View the complete list with 1 more genes
Specificity
5 %
Genes
100 %
Progeroid syndromes and related disorders Comprehensive panel.

By Connective Tissue Gene Tests (United States).

WRN, ZMPSTE24, BSCL2, BANF1, B3GALT6, SLC25A24, AGPAT2, ERCC2, ERCC3, ERCC4, ERCC5, ERCC6, ERCC8, FBN1, LMNA, PDGFRB, POLD1, B4GALT7, PYCR1, ALDH18A1 , (...)

View the complete list with 1 more genes
Specificity
5 %
Genes
100 %
Progeroid syndromes and related disorders Deletion / Duplication panel.

By Connective Tissue Gene Tests (United States).

WRN, ZMPSTE24, BSCL2, BANF1, B3GALT6, SLC25A24, AGPAT2, ERCC2, ERCC3, ERCC4, ERCC5, ERCC6, ERCC8, FBN1, LMNA, PDGFRB, POLD1, B4GALT7, PYCR1, ALDH18A1 , (...)

View the complete list with 1 more genes
Specificity
5 %
Genes
100 %
SLC25A24.

By Fulgent Genetics Fulgent Genetics (United States).

SLC25A24
Specificity
100 %
Genes
100 %

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Sources and references

You can check the following sources for additional information.

OMIM ORPHANET Rare Disease Symptoms Checker

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