Table 1

Clinical information for DYNC2H1 JATD patients

FamilyPatientOriginSexAge range of patientRelated parentsHandsFeetRib cageLimbsShort stature/height percentileSkeleton anomalyLiver, kidney, eye featuresRemarks
JATD-1 (Case 4*)II-2DutchM20sNoNo polydactyly, metacarpals and phalanges radiologically normalNo polydactylyNarrow, short, broad ribs, thorax; surgically correctedMild shortening radius/ulna in infancyP50Trident appearance of acetabular margins; handlebar claviclesThoracic scoliosis (convex to right); no renal or retinal involvementChest pain during and after exercise and stress; hypovascular pancreas lesion
JATD-2 (Case 5*)II-1DutchM20sNoShort distal carpals and distal phalanges in infancy; brachydactylyNo polydactyly,Narrow, short, horizontal ribsShort limbs in infancyP25–50Short iliac bones with spur-like protrusions; handlebar claviclesThoracolumbal scoliosis (convex to left); no renal or retinal involvementSyndactyly of digits 2 and 3 (both feet); hallux valgus (right), short breath during sport
JATD-3 (Case 6, 7*)II-4DutchMLate teensYesPossible brachydactyly (not pronounced); no polydactylyNo polydactylySmall, bell-shaped thorax with short, broad ribs and short sternumShortened limbs in infancyAt the age of 12 years height below the third centileAbnormal pelvic configuration with acetabular spiky protrusions; elevated claviclesNo renal or retinal abnormalitiesRespiratory distress after birth, which improved after hours
II-5DutchMDied 2nd month (respiratory insufficiency)No polydactylyNo polydactylyNarrow thorax, short ribsShort limbsNATrident appearance of acetabular margins; elevated claviclesSigns of mild retinitis pigmentosa, bile duct proliferation and portal tract fibrosis, renal mesangial glomerular sclerosisSevere respiratory distress at birth; lung hypoplasia with interstitial fibrosis; cardiac septum defect; cerebral ventriculomegaly
JATD-4 UCL47UCL47.1DutchF30sNoBrachydactyly; no polydactylyBrachydactyly; no polydactylyNarrowMild shorteningP50–75Acetabular spurs, small iliaMildly disturbed liver enzymes; normal vision, normal renal ultrasound 
JATD-5 UCL61UCL61.1DutchMFetusNoNo polydactylyNo polydactylyExtremely narrowShort arms and short bowed femurNA (fetus)Acetabular spursLarge kidneys on ultrasound in utero 
JATD-6II-1DutchMUnder 10NoNo polydactylyNo polydactylyNarrowMild shorteningP10–25. (height 109 cm at 5 years 6 months)Small ilea with acetabular spurs; brachydactyly, mild rhizomelic shortening (neonatally)No renal or retinal involvementHernia inguinalis; exorotation of legs; chest and leg pain induced by exercise
JATD-7 UCL19UCL19.1BelgianNAFetusNoNo polydactyly. Short and broad hands, short fingers; fixed extension of the first interphalangeal jointsNo polydactylyVery narrow, tubularShort long bones with irregular metaphysis and bony spikes at the endsNANormal vertebrae. Short ilia with typical medial bony projectionPerimembranous VSD
JATD-8 UCL 63UCL63.1GermanFUnder 10NoNo polydactylyNo polydactylyNarrow thorax, short horizontal ribsVery mild shorteningP50–75Small ilia, acetabular spursNo renal disease, liver disease or retinopathy 
JATD-9II-1PolishFUnder 5YesNo polydactyly, mildly rhizomelic shortening of upper limbs and large handsNo polydactylyVery narrow, pectus carinatus P90Anterior of ribs ossified with wide rounded margins, phalanges have cone-shaped epiphysis, short shafts of phalanges and metacarpal bones. ∼2 years advanced bone ageNormal abdominal ultrasound, no signs of retinal diseaseMild respiratory problems after birth high forehead, widely spaced teeth
JATD-10 UCL15UCL15.1UK AshkenasiNAFetusNoNo polydactylyNo polydactylyNarrowShort femurNA (fetus)Small ilia, typical acetabular spurs  
UCL15.2NAFetusNA (fetus)
UCL15.3NAFetusNA (fetus)
JATD-11 UCL90UCL90.1UKFUnder 5NoNo polydactylyNo polydactylyNarrow, asymmetric shapeMildly shortened upper and lower extremities in early childhoodSlightly short staturePelvis radiologically compatible with JATDNo retinal, renal or liver diseaseDelayed motor milestones (walking with 2.5 years of age), valgus deformity of the feet
JATD-12 UCL48UCL48.1UKFDied as neonateNoNo polydactylyNo polydactylyNarrow, severe shortening of ribs with bulbous anterior endsMild shortening long bones, slight bowing of femurs. Mildly shortened tubular bones of handsLimbs <5th centile at 20/40, chest size queriedHorizontal acetabular roof with medial and lateral spurs, narrow sciatic notches and short iliac wings—trident pelvisLong superiorly placed clavicles. No renal, retinal or liver diseaseSevere respiratory distress at birth, died within hours of birth
UCL48.2MFetusNA (fetus)
UCL48.3FFetusNA (fetus)
JATD-13 UCL39UCL39.1Caucasian USAMUnder 10 (loss of follow-up)YesNANANarrow NA (not documented)NANA 
JATD-14 UCL80UCL80.1TurkishMDied in 1st year (respiratory failure)YesNo polydactyly, cone-shaped epiphysesNo polydactylySeverely narrowedShort long bones<P3 in infancyTrident acetabulum, acetabular spurs, small iliaSevere respiratory distress 
UCL80.2FDied at 1.5 years (pneumonia)No polydactylyNo polydactylyMild narrowingShort long bones<P3 in infancyFrequent chest infections; no renal or retinal involvementAlbinism
JATD-15 UCL58UCL58.1TurkishMDied at 1.5 years (respiratory failure)YesNo polydactylyNo polydactylyTubular bell-shaped thoraxMildly shortened extremitiesP3 at 1.5 yearsDysplastic acetabulumNormal kidney function (unilateral renal pelvic ectasia seems unrelated to JATD), no liver disease, no retinopathyValgus deformity of the feet, mild frontal bossing, left sided testis hydrocele, patent ductus arteriosus
JATD-16 UCL81UCL81.1TurkishMMid-teensYesUnilateral postaxial polydactylyNo polydactylyNarrowMild shorteningP97 at 9 yearsTrident acetabulum, acetabular spurs; handlebar claviclesElevated liver enzymes since age 7 years; no renal or retinal involvementUnilateral atresia of external ear meatus and ear anomaly
JATD-17 UCL95UCL95.1TurkishFUnder 5NoNo polydactylyNo polydactylyNarrowShort limbs in early childhoodP3–10 at 3 yearsPelvis and thorax radiologically compatible with JATDNormal renal function and ultrasound, no retinitis pigmentosa, normal liver functionShort neck, elevated claviculae
UCL95.2MDied at first day of life (respiratory failure)NarrowShort limbsNANo signs of renal, retinal or liver disease 
UCL95.3FFetusShort ribsShort extremitiesNANA
JATD-18 UCL62UCL62.1Turkish–KurdishMUnder 5NoNo polydactylyNo polydactylySeverely narrow Pelvis and thorax radiologically compatible with JATDNo renal or retinal diseaseOesophageal atresia
UCL62.2Under 5No polydactyly, broad hands, short fingersNo polydactylyMilder narrowingBroad hands and toes, slightly short fingersNA 
JATD-19 UCL109UCL109.1UK Yemen–SomaliMUnder 5NoNo polydactylyNo polydactylySeverely narrowed Height NA, not obviously below averagePelvis and thorax radiologically compatible with JATDNo renal or retinal involvementSevere respiratory distress, tracheostoma, currently on home ventilation at night
UCL109.2MUnder 5Narrow No renal or retinal involvementVery mild respiratory symptoms
  • *Patient previously described.55 Ages approximated to protect patient privacy. Clinical details relate to information taken at ascertainment or at most recent review, indicated in ‘age range’ column. Retinal disease was excluded in most patients with fundoscopy.

  • JATD, Jeune asphyxiating thoracic dystrophy; IFTB, intraflagellar transport complex B; NA, not available; UCL, University College London; VSD, ventricular septum defect.