Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy

Description

Joubert syndrome with Jeune asphyxiating thoracic dystrophy (JATD) is an extremely rare genetic bone disorder characterized by the classic features of Joubert syndrome (i.e. malformation of the brainstem causing ataxia, hypotonia,cognitive impairment, and abnormal eyemovements), associated with the skeletal anomalies found in JATD including short-rib dysplasia and narrow thorax causing respiratory failure, short limbs, and metaphyseal changes.

Clinical Features

Top most frequent phenotypes and symptoms related to Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy

  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Hypertelorism
  • Failure to thrive
  • Micrognathia
  • Low-set ears
  • Feeding difficulties
  • Depressed nasal bridge
  • Epicanthus

And another 63 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

Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy Is also known as jbts with jatd, joubert syndrome with jatd.

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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Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Non-immune Hydrops Panel.

By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center (United States).

RIT1, RPL11, RPL35A, RPL5, RPS10, RPS17, RPS19, RPS24, RPS26, SEC23B, SLC17A5, BRAF, SMPD1, SOS1, SOS2, SOX18, UROS, CBL, SHOC2, ALG9 , (...)

View the complete list with 66 more genes
Specificity
2 %
Genes
50 %
Joubert/Meckel-Gruber syndrome Panel.

By Genetic Services Laboratory University of Chicago (United States).

CEP41, TMEM237, KIF14, KIAA0586, INPP5E, AHI1, B9D1, TCTN3, CEP104, TMEM216, ARL13B, TTC21B, OFD1, TCTN2, CPLANE1, TCTN1, CSPP1, CEP120, TMEM138, TMEM107 , (...)

View the complete list with 13 more genes
Specificity
7 %
Genes
100 %
Renal Cystic Disorders Sequencing Panel.

By Genetic Services Laboratory University of Chicago (United States).

SALL1, SDCCAG8, HNF1B, TFAP2A, TSC1, TSC2, CEP41, UMOD, VHL, ARL6, NEK8, TMEM237, TRIM32, CDC73, INVS, CEP83, DCDC2, WDR19, CRB2, BBS7 , (...)

View the complete list with 55 more genes
Specificity
3 %
Genes
100 %
Joubert/Meckel Gruber Syndrome Deletion/Duplication Panel.

By Genetic Services Laboratory University of Chicago (United States).

CEP41, TMEM237, KIF14, KIAA0586, INPP5E, AHI1, B9D1, TCTN3, CEP104, TMEM216, ARL13B, TTC21B, OFD1, TCTN2, CPLANE1, TCTN1, CSPP1, CEP120, TMEM138, TMEM107 , (...)

View the complete list with 13 more genes
Specificity
7 %
Genes
100 %
Ataxia Exome Panel.

By Genetic Services Laboratory University of Chicago (United States).

BCS1L, RTN2, SACS, SCN1A, SCN2A, SCN8A, SCO1, SDHA, SDHD, SLC16A2, SLC17A5, SLC19A2, SLC1A3, SLC20A2, SLC2A1, SLC6A1, SLC9A1, SLC9A6, SNAP25, SOD1 , (...)

View the complete list with 457 more genes
Specificity
1 %
Genes
100 %
Joubert and Meckel-Gruber Syndromes Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics (United States).

CEP41, TMEM237, SUFU, ZNF423, KIF14, KIAA0586, ARMC9, INPP5E, AHI1, PIBF1, B9D1, TCTN3, C2CD3, CEP104, TMEM216, ARL13B, TTC21B, OFD1, TCTN2, CPLANE1 , (...)

View the complete list with 18 more genes
Specificity
6 %
Genes
100 %
Comprehensive Inherited Retinal Dystrophies (includes RPGR ORF15) Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics (United States).

RGS9, RHO, GRK1, RLBP1, ROM1, RP1, RP2, RP9, RPE65, RPGR, RS1, CNNM4, SAG, SDCCAG8, SEMA4A, SLC24A1, SLC4A7, SPP2, PLK4, TEAD1 , (...)

View the complete list with 286 more genes
Specificity
1 %
Genes
100 %
Skeletal dysplasia ciliopathy Deletion / Duplication panel.

By Connective Tissue Gene Tests (United States).

CFAP410, IFT122, IFT52, WDR19, EVC2, KIAA0586, WDR60, DYNC2LI1, TTC21B, CEP120, WDR34, IFT140, WDR35, IFT80, DYNC2H1, IFT43, IFT172, EVC, NEK1
Specificity
6 %
Genes
50 %

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Sources and references

You can check the following sources for additional information.

ORPHANET Rare Disease Search Engine

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