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  • Asphyxiating thoracic dystrophy (Jeune syndrome) Relevant markers:
    HydropsHypoplastic thoracic cageMesomelia of forearmsMesomelia of legsNarrow thoraxNuchal edema/fold/Increased nuchal translucency (NT)/cystic hygromaPolycystic (enlarged echogenic) kidney/sRhizomelia/short femurRhizomelia/short humerusShort fibulaShort radiusShort rib/sShort tibiaShort ulnaShort long bonesBowed femurNasal bone hypoplasia / aplasiaBroad nasal bridgeFlat nasal bridge
    Parents markers:
    KidneysLong bones of legsPelvis bonesPolydactyly of foot/feetPolydactyly of hand/sRibsShort limbs
      Incidence:1/500000 — 5/500000
      Involved genes:
      (gene — definition — chromosome)      		15q13, DYNC2H1 — DYNEIN, CYTOPLASMIC 2, HEAVY CHAIN 1 — 11q22.3 , IFT140 — INTRAFLAGELLAR TRANSPORT 140, CHLAMYDOMONAS, HOMOLOG OF — 16p13.3 , IFT172 — INTRAFLAGELLAR TRANSPORT 172, CHLAMYDOMONAS, HOMOLOG OF — 2p23.3 , IFT80 — INTRAFLAGELLAR TRANSPORT 80, CHLAMYDOMONAS, HOMOLOG OF — 3q25.33 , TTC21B — TETRATRICOPEPTIDE REPEAT DOMAIN-CONTAINING PROTEIN 21B — 2q24.3 , WDR19 — WD REPEAT-CONTAINING PROTEIN 19 — 4p14 , WDR34 — WD REPEAT-CONTAINING PROTEIN 34 — 9q34.11 , WDR35 — WD REPEAT-CONTAINING PROTEIN 35 — 2p24.1 , WDR60 — WD REPEAT-CONTAINING PROTEIN 60 — 7q36.3
      Inheritance mode:AR
      Other online databases:OrphaNet, Geneva Foundation
      Links:emedicine.medscape.com
      References:
      1999 Journal of ultrasound in medicine Case reports Read on PubMed
      2012 Fetal Pediatr Pathol Case report Read on PubMed
      2013 Clin Exp Obstet Gyn Case report Read on PubMed
      2013 J Med Genet Cohort study Read on PubMed
      2015 Pol J Radiol Case report Read on PubMed
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