Barber-say Syndrome

Description

Barber Say syndrome (BSS) is a rare ectodermal dysplasia with neonatal onset characterized by congenital generalized hypertrichosis, atrophic skin, ectropion and microstomia.

Clinical Features

Top most frequent phenotypes and symptoms related to Barber-say Syndrome

  • Intellectual disability
  • Global developmental delay
  • Hearing impairment
  • Growth delay
  • Hypertelorism
  • Failure to thrive
  • Micrognathia
  • Abnormal facial shape
  • Cleft palate
  • Low-set ears

And another 58 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

Barber-say Syndrome Is also known as bss, hypertrichosis-atrophic skin-ectropion-macrostomia syndrome, hypertrichosis, atrophic skin, ectropion, and macrostomia.

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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Barber-say Syndrome Recommended genes panels

Panel Name, Specifity and genes Tested/covered
TWIST2. Complete sequencing.

By Instituto de Medicina Genomica Instituto de Medicina Genomica (Spain).

TWIST2
Specificity
100 %
Genes
100 %
Disorders of Sex Development (DSD) and Infertility Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics (United States).

ROR2, SALL1, BMP15, BMP4, SEMA3A, SEMA3E, BMP7, FOXL2, BRDT, SOS1, SOX10, SOX2, SOX3, SOX9, SRA1, SRD5A2, SRY, STAG3, STAR, AURKC , (...)

View the complete list with 187 more genes
Specificity
1 %
Genes
100 %
Disorders of Sex Development (DSD) Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics (United States).

ROR2, SALL1, BMP15, BMP4, SEMA3A, BMP7, FOXL2, SOS1, SOX10, SOX2, SOX3, SOX9, SRD5A2, SRY, STAR, TAC3, TACR3, TBX15, HNF1B, MED12 , (...)

View the complete list with 138 more genes
Specificity
1 %
Genes
100 %
Ambiguous Genitalia Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics (United States).

ROR2, SALL1, BMP4, SEMA3A, SOS1, SOX10, SOX2, SOX3, SOX9, SRD5A2, SRY, STAR, TBX15, CEP41, TSPYL1, WNT4, WNT5A, WNT7A, WT1, WWOX , (...)

View the complete list with 65 more genes
Specificity
2 %
Genes
100 %
Barber-Say syndrome Comprehensive test.

By Connective Tissue Gene Tests (United States).

TWIST2
Specificity
100 %
Genes
100 %
Ablepharon-macrostomia syndrome Comprehensivetest.

By Connective Tissue Gene Tests (United States).

TWIST2
Specificity
100 %
Genes
100 %
Barber-Say syndrome Deletion / Duplication test.

By Connective Tissue Gene Tests (United States).

TWIST2
Specificity
100 %
Genes
100 %
Ablepharon-macrostomia syndrome Deletion / Duplication test.

By Connective Tissue Gene Tests (United States).

TWIST2
Specificity
100 %
Genes
100 %

We have 10 more panels available in our App

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Sources and references

You can check the following sources for additional information.

ORPHANET OMIM MESH Rare Disease Symptoms Checker

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