IllnessShort-rib thoracic dysplasia. differential diagnosis

NGS +

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

• 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)