Short-rib Thoracic Dysplasia 4 With Or Without Polydactyly; Srtd4
Description
Short-rib thoracic dysplasia (SRTD) with or without polydactyly refers to a group of autosomal recessive skeletal ciliopathies that are characterized by a constricted thoracic cage, short ribs, shortened tubular bones, and a 'trident' appearance of the acetabular roof. SRTD encompasses Ellis-van Creveld syndrome (EVC) and the disorders previously designated as Jeune syndrome or asphyxiating thoracic dystrophy (ATD), short rib-polydactyly syndrome (SRPS), and Mainzer-Saldino syndrome (MZSDS). Polydactyly is variably present, and there is phenotypic overlap in the various forms of SRTDs, which differ by visceral malformation and metaphyseal appearance. Nonskeletal involvement can include cleft lip/palate as well as anomalies of major organs such as the brain, eye, heart, kidneys, liver, pancreas, intestines, and genitalia. Some forms of SRTD are lethal in the neonatal period due to respiratory insufficiency secondary to a severely restricted thoracic cage, whereas others are compatible with life (summary by Huber and Cormier-Daire, 2012 and Schmidts et al., 2013). There is phenotypic overlap with the cranioectodermal dysplasias (Sensenbrenner syndrome; see CED1, {218330}).For a discussion of genetic heterogeneity of short-rib thoracic dysplasia, see SRTD1 (OMIM ).
Genes related to Short-rib Thoracic Dysplasia 4 With Or Without Polydactyly; Srtd4
- TTC21B
Clinical Features
Top most frequent phenotypes and symptoms related to Short-rib Thoracic Dysplasia 4 With Or Without Polydactyly; Srtd4
- Short stature
- Scoliosis
- Brachydactyly
- Respiratory insufficiency
- Polydactyly
- Cleft lip
- Narrow chest
- Retinal degeneration
- Oral cleft
- Stage 5 chronic kidney disease
And another 4 symptoms. If you need more information about this disease we can help you.
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
Short-rib Thoracic Dysplasia 4 With Or Without Polydactyly; Srtd4 Is also known as asphyxiating thoracic dystrophy 4, atd4.
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.Short-rib Thoracic Dysplasia 4 With Or Without Polydactyly; Srtd4 Recommended genes panels
Panel Name, Specifity and genes Tested/covered |
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Ciliopathies.
By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University (United States).
RPE65, RPGR, SDCCAG8, TSC1, TSC2, CEP41, TULP1, USH1C, USH2A, CLRN1, VHL, ZIC3, NEK8, RPGRIP1, CDH23, TMEM237, PCDH15, USH1G, WHRN, TRIM32 , (...)
View the complete list with 73 more genes
Specificity
2 %
Genes
100 % |
Comprehensive Brain Malformation Panel.
By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University (United States).
SHH, STIL, SIX3, SLC9A6, SOX2, CDKL5, TGIF1, MED12, CEP41, TUBA8, UBE3A, VLDLR, VRK1, ZIC2, ACTB, MRPS16, NSD1, RAB18, ACTG1, SLC25A19 , (...)
View the complete list with 86 more genes
Specificity
1 %
Genes
100 % |
Joubert Syndrome.
By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University (United States).
CEP41, TMEM237, INPP5E, AHI1, B9D1, TMEM216, ARL13B, TTC21B, OFD1, TCTN2, CPLANE1, TCTN1, TMEM138, TMEM67, B9D2, CEP290, RPGRIP1L, CC2D2A, KIF7, MKS1 , (...)
View the complete list with 2 more genes
Specificity
5 %
Genes
100 % |
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
4 %
Genes
100 % |
Nephronophthisis Deletion/Duplication Panel.
By Genetic Services Laboratory University of Chicago (United States).
SDCCAG8, NEK8, ZNF423, INVS, CEP83, DCDC2, WDR19, NPHP4, TTC21B, ANKS6, XPNPEP3, TMEM67, IQCB1, CEP290, RPGRIP1L, CEP164, GLIS2, IFT172, NPHP1, NPHP3
Specificity
5 %
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
2 %
Genes
100 % |
Nephronophthisis Sequencing Panel.
By Genetic Services Laboratory University of Chicago (United States).
SDCCAG8, NEK8, ZNF423, INVS, CEP83, DCDC2, WDR19, NPHP4, TTC21B, ANKS6, XPNPEP3, TMEM67, IQCB1, CEP290, RPGRIP1L, CEP164, GLIS2, IFT172, NPHP1, NPHP3
Specificity
5 %
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
4 %
Genes
100 % |
You can get up to 91 more panels with our dedicated tool
Learn moreSources and references
You can check the following sources for additional information.
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