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IllnessShort-rib thoracic dysplasia. differential diagnosis

Summary

Short information

Comprehensive differential diagnostic panel for Short-rib thoracic dysplasia comprising 6 or 28 curated genes according to the clinical signs

ID
KP0939
Number of genes
21 Accredited laboratory test
Examined sequence length
28,7 kb (Core-/Core-canditate-Genes)
73,5 kb (Extended panel: incl. additional genes)
Analysis Duration
on request
Material
  • EDTA-anticoagulated blood (3-5 ml)
Diagnostic indications

NGS +

 

Gene panel

Selected genes

NameExon Length (bp)OMIM-GHeredity
DYNC2H112945AR
DYNC2I21611AR
IFT1404389AR
IFT802334AR
NEK13777AR
WDR353546AR
CEP1202961AR
CSPP13666AR
DYNC2I13201AR
DYNC2LI11438AR
DYNLT2B434AR
EVC2979AD, AR
EVC23927AD, AR
IFT1223879AR
IFT1725250AR
IFT43642AR
IFT521327AR
IFT812158AR
KIAA05865005AR
TTC21B3951AD, AR
WDR194029AR

Informations about the disease

Clinical Comment

The short rib polydactyly syndromes (SRPS) are a genetically heterogeneous group of severe skeletal disorders. Characteristic findings in SRPS include short horizontal ribs, shortened appendicular long-bone limbs and polydactyly. Historically, four different types of SRPS have been differentiated: SRPS I (Saldino-Noonan syndrome), SRPS II (Majweski syndrome), SRPS III (Verma-Naumoff syndrome), SRPS IV (Beemer-Langer syndrome). Today, SRPS are classified as ciliopathies with severe skeletal involvement. This group of disorders also includes chondroectodermal dysplasia (Ellis-van Creveld syndrome, EVC), oral-facial-digital syndrome type 4 (Mohr-Majewski syndrome) and asphyxiating thoracic dystrophy (Jeune syndrome). While different radiographic and clinical features characterize the SRPS subtypes, there is significant phenotypic overlap due to transitional findings. SRPS (types I-IV) are associated with high lethality due to pulmonary hypoplasia and respiratory impairment; infants born alive usually die shortly after birth. The mode of inheritance is autosomal recessive, the DNA diagnostic yield is currently unknown. A negative molecular genetic result does not exclude the clinical diagnosis.

Referenz: https://doi.org/10.1016/B978-0-323-44548-1.00055-3

 

Synonyms
  • Alias: Asphyxiating thoracic dystrophy 5 (WDR19)
  • Alias: Jeune asphyxiating thoracic dystrophy (all genes of panel except EVC EVC2 WDR35)
  • Alias: Levi syndrome 1 (IFT122)
  • Alias: Majewski Syndrom (NEK1)
  • Alias: Polydactyly with neonatal chondrodystrophy, type II (NEK1)
  • Alias: Senior-Løken syndrome (EP290, IQCB1, NPHP1, NPHP4, SDCCAG8, TRAF3IP1, WDR19)
  • Alias: Sensenbrenner syndrome (IFT43, IFT52, IFT122, IFT140, WDR19, WDR35)
  • Allelic: Acrocallosal syndrome (KIF7)
  • Allelic: Amyotrophic lateral sclerosis, susceptibility to, 24 (NEK1)
  • Allelic: Cranioectodermal dysplasia 1 (IFT122)
  • Allelic: Cranioectodermal dysplasia 2 (WDR35)
  • Allelic: Cranioectodermal dysplasia 3 (IFT43)
  • Allelic: Cranioectodermal dysplasia 4 (WDR19)
  • Allelic: Ellis-van Creveld syndrome (EVC)
  • Allelic: Ellis-van Creveld syndrome (EVC2)
  • Allelic: Epilepsy, juvenile myoclonic, susceptibility to, 10 (CILK1 syn. ICK)
  • Allelic: Joubert syndrome 12 (KIF7)
  • Allelic: Joubert syndrome 21 (CSPP1)
  • Allelic: Joubert syndrome 23 (KIAA0586)
  • Allelic: Joubert syndrome 31 (CEP120)
  • Allelic: Nephronophthisis 12 (TTC21B)
  • Allelic: Nephronophthisis 13 (WDR19)
  • Allelic: Orofaciodigital syndrome XVII (INTU)
  • Allelic: Retinal dystrophy with macular staphyloma (CFAP410 syn. C21orf2)
  • Allelic: Retinitis pigmentosa 71 (IFT172)
  • Allelic: Retinitis pigmentosa 80 (IFT140)
  • Allelic: Retinitis pigmentosa 81 (IFT43)
  • Allelic: Senior-Loken syndrome 8 (WDR19)
  • Allelic: Weyers acrofacial dysostosis (EVC)
  • Allelic: Weyers acrofacial dysostosis (EVC2)
  • Al-Gazali-Bakalinova syndrome (KIF7)
  • Allelic: Joubert syndrome 10 (OFD1)
  • Allelic: Orofaciodigital syndrome I (OFD1)
  • Allelic: Retinitis pigmentosa 23 (OFD1)
  • Endocrine-cerebroosteodysplasia (CILK1 syn. ICK)
  • Hydrolethalus syndrome (HYLS1)
  • Hydrolethalus syndrome 2 (KIF7)
  • Hyperparathyroidism, transient neonatal (TRPV6)
  • Mainzer-Saldino syndrome (IFT140)
  • Orofaciodigital syndrome XIV (C2CD3)
  • Short-rib thoracic dysplasia 10 with/-out polydactyly (IFT172)
  • Short-rib thoracic dysplasia 11 with/-out polydactyly (DYNC2I2 syn. WDR34)
  • Short-rib thoracic dysplasia 13 with/-out polydactyly (CEP120)
  • Short-rib thoracic dysplasia 14 with polydactyly (KIAA0586)
  • Short-rib thoracic dysplasia 15 with polydactyly (DYNC2LI1)
  • Short-rib thoracic dysplasia 16 with/-out polydactyly (IFT52)
  • Short-rib thoracic dysplasia 17 with/-out polydactyly (TCTEX1D2)
  • Short-rib thoracic dysplasia 18 with polydactyly (IFT43)
  • Short-rib thoracic dysplasia 19 with/-out polydactyly (IFT81)
  • Short-rib thoracic dysplasia 2 with or without polydactyly (IFT80)
  • Short-rib thoracic dysplasia 20 with polydactyly (INTU)
  • Short-rib thoracic dysplasia 3 with/-out polydactyly (DYNC2H1)
  • Short-rib thoracic dysplasia 4 with/-out polydactyly (TTC21B)
  • Short-rib thoracic dysplasia 5 with/-out polydactyly (WDR19)
  • Short-rib thoracic dysplasia 6 with/-out polydactyly (NEK1)
  • Short-rib thoracic dysplasia 7 with/-out polydactyly (WDR35)
  • Short-rib thoracic dysplasia 8 with/-out polydactyly (DYNC2I1 syn. WDR60)
  • Short-rib thoracic dysplasia 9 with/-out polydactyly (IFT140)
  • Simpson-Golabi-Behmel syndrome, type 2 (OFD1)
  • Spondylometaphyseal dysplasia, axia (CFAP410 syn. C21orf2)
Heredity, heredity patterns etc.
  • AD
  • AR
OMIM-Ps
  • Multiple OMIM-Ps
ICD10 Code
Q77.2

Bioinformatics and clinical interpretation

No text defined