IllnessJeune syndrome, differential diagnosis

NGS +

Asphyxiating thoracic dystrophy (Jeune syndrome) is a hereditary disorder of bone growth with a narrow rib cage, short ribs, shortened arm and leg bones, short stature as well as polydactyly. Other skeletal abnormalities may include abnormally shaped clavicles, pelvic bones and tapered ends of the long limb bones. Many children with this condition are born with extremely narrow chests that limit the expansion of the lungs. Life-threatening respiratory problems can lead to infantile death. For those who survive the first few years, breathing may improve with age. Some patients are born with only mild problems and live into adolescence or adulthood, but may develop life-threatening kidney abnormalities. Cardiac defects and subglottic stenosis may occur. Less common features of Jeune syndrome include liver disease, pancreatic cysts, dental abnormalities and retinal dystrophy. Mutations in >30 genes are part of the differential diagnosis of this skeletal ciliopathy. Genetic alterations in the DYNC2H1 gene are responsible for up to 50% of cases. The disease is mostly inherited in an autosomal recessive manner. Although the diagnostic yield via molecular genetics can be as high as 90%, a negative DNA test result does not exclude the clinical diagnosis.

Reference: https://www.ncbi.nlm.nih.gov/books/NBK1325/

• Alias: Asphyxiating thoracic chondrodystrophy
• Alias: Asphyxiating thoracic dysplasia
• Alias: Chondroectodermal dysplasia-like syndrome
• Alias: Infantile thoracic dystrophy
• Alias: Jeune asphyxiating thoracic dystrophy, JATD
• Alias: Jeune thoracic dysplasia
• Alias: Thoracic asphyxiant dystrophy
• Alias: Thoracic-pelvic-phalangeal dystrophy
• DD: Ellis-van Creveld syndrome (EVC, EVC2)
• DD: Loucks-Innes syndrome
• DD: Sensenbrenner syndrome
• Allelic: Amyotrophic lateral sclerosis, susceptibility to, 24 (NEK1)
• Allelic: Cranioectodermal dysplasia 4 (WDR19)
• Allelic: Epilepsy, juvenile myoclonic, susceptibility to, 10 (CILK1)
• 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)
• 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, EVC2)
• Acrocallosal syndrome (KIF7)
• Acrocallosal syndrome (OFD1)
• Al-Gazali-Bakalinova syndrome (KIF7)
• Al-Gazali-Bakalinova syndrome (OFD1)
• Cranioectodermal dysplasia 1 (IFT122)
• Cranioectodermal dysplasia 2 (WDR35)
• Cranioectodermal dysplasia 3 (IFT43)
• Endocrine-cerebroosteodysplasia (CILK1)
• Hydrolethalus syndrome (HYLS1)
• Hydrolethalus syndrome 2 (KIF7)
• Hydrolethalus syndrome 2 (OFD1)
• Joubert syndrome 12 (KIF7)
• Joubert syndrome 12 (OFD1)
• Joubert syndrome 21 (CSPP1)
• Orofaciodigital syndrome XIV (C2CD3)
• Short-rib thoracic dysplasia 10 with/-out polydactyly (IFT172)
• Short-rib thoracic dysplasia 11 with/-out polydactyly (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/-out 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 (WDR60)
• Short-rib thoracic dysplasia 9 with/-out polydactyly (IFT140)
• Spondylometaphyseal dysplasia, axial (CFAP410)