Temple-baraitser Syndrome

Description

Temple-Baraitser syndrome is a rare developmental anomalies syndrome characterized by severe intellectual disability and distal hypoplasia of digits, particularly of thumbs and halluces, with nail aplasia or hypoplasia. Facial dysmorphism with a pseudo-myopathic appearance has been reported, which may include high anterior hairline or low frontal hairline with central cowlick, flat forehead, ptosis, hypertelorism, downslanting palpebral fissures, epicanthal folds, ears with thick helices, broad depressed nasal bridge with anteverted nares, short columella, long philtrum, high-arched palate, broad mouth with thick vermilion border of the upper or the lower lip and downturned corners. Marked hypotonia, seizures and global developmental delay have been reported, associated with autistic spectrum disorder manifestations in some patients.

Clinical Features

Top most frequent phenotypes and symptoms related to Temple-baraitser Syndrome

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment
  • Hypertelorism
  • Abnormal facial shape
  • Muscular hypotonia
  • Ptosis
  • High palate

And another 46 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

Temple-baraitser Syndrome Is also known as severe intellectual disability-aplasia/hypoplasia of thumb and hallux syndrome, mental retardation, severe, and absent nails of hallux and pollex, tmbts.

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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Temple-baraitser Syndrome Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Comprehensive Epilepsy and Seizure Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics (United States).

RORB, SCN10A, SCN1A, SCN1B, SCN2A, SCN8A, SCN9A, ST3GAL3, ST3GAL5, SLC17A5, SLC1A2, SLC2A1, SLC35A2, SLC6A1, SLC9A6, SMARCA2, SMC1A, SNAP25, SON, SPTAN1 , (...)

View the complete list with 133 more genes
Specificity
1 %
Genes
100 %
Temple-Baraitser Syndrome and Zimmermann-Laband Syndrome via KCNH1 Gene Sequencing with CNV Detection.

By PreventionGenetics PreventionGenetics (United States).

KCNH1
Specificity
100 %
Genes
100 %
Epilepsy and Seizure Plus Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics (United States).

RORB, RYR3, SCN1A, SCN1B, SCN2A, SCN3A, SCN5A, SCN8A, SCN9A, SGCE, ST3GAL3, ST3GAL5, SLC25A12, SLC2A1, SLC35A2, SLC35A3, SLC6A1, SLC6A8, SLC9A6, SMC1A , (...)

View the complete list with 202 more genes
Specificity
1 %
Genes
100 %
Zimmermann-Laband syndrome NGS panel.

By Connective Tissue Gene Tests (United States).

KCNH1, ATP6V1B2
Specificity
50 %
Genes
100 %
Zimmermann-Laband syndrome Deletion / Duplication panel.

By Connective Tissue Gene Tests (United States).

KCNH1, ATP6V1B2
Specificity
50 %
Genes
100 %
Zimmermann-Laband syndrome Comprehensive panel.

By Connective Tissue Gene Tests (United States).

KCNH1, ATP6V1B2
Specificity
50 %
Genes
100 %
Mental retardation - different panels.

By Institute of Human Genetics Uniklinik RWTH Aachen (Germany).

RGS7, RIT1, RMRP, BCS1L, RPL10, RPS6KA3, RRAS, SALL1, SC5D, ATXN10, BLM, SCN1A, SCN2A, SCN8A, SCO2, AIMP1, SDCCAG8, SDHA, SDHB, SGSH , (...)

View the complete list with 845 more genes
Specificity
1 %
Genes
100 %
Temple-Baraitser syndrome.

By Centogene AG - the Rare Disease Company (Germany).

KCNH1
Specificity
100 %
Genes
100 %

We have 2 more panels available in our App

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Sources and references

You can check the following sources for additional information.

MESH OMIM ORPHANET Rare Disease Symptoms Checker

If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like THROMBOCYTOPENIA 2; THC2 SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 10; SCAR10 SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 7; SCAR7 EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 14; EIEE14 DYSTONIA 3, TORSION, X-LINKED; DYT3

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