▁features ▁ ▁Vent ric ular ▁sept al ▁defect ▁ ▁T et ral ogy ▁of ▁Fall ot ▁ ▁Sk et el al ▁features ▁ ▁C lin od act y ly ▁of ▁the ▁fifth ▁fingers ▁ ▁Sy nd act y ly ▁of ▁the ▁second ▁and ▁third ▁to es ▁ ▁Small ▁thumb s ▁ ▁Small ▁fib ula e ▁O thers ▁ ▁Ab normal ▁skin ▁p ig ment ation ▁▁ ▁Single ▁pal mar ▁cre ase ▁ ▁Gen et ics ▁ ▁This ▁condition ▁is ▁caused ▁by ▁mut ations ▁in ▁the ▁D D X 1 1 ▁gene ▁which ▁is ▁located ▁on ▁the ▁short ▁arm ▁of ▁chrom os ome ▁ 1 2 ▁( 1 2 p 1 1 ). ▁ ▁This ▁gene ▁enc odes ▁an ▁iron - s ulf ur ▁containing ▁DNA ▁hel ic ase ▁that ▁belongs ▁to ▁the ▁super family ▁ 2 ▁of ▁hel ic ases . ▁This ▁protein ▁interact s ▁with ▁the ▁ 9 - 1 - 1 ▁check point ▁complex ▁protein . ▁ ▁The ▁inheritance ▁pattern ▁is ▁not ▁yet ▁clear . ▁ ▁Di agn osis ▁ ▁The ▁diagn osis ▁may ▁be ▁sus pected ▁on ▁clin ical ▁grounds ▁and ▁can ▁be ▁confirmed ▁by ▁sequ encing ▁the ▁D D X 1 1 ▁gene . ▁ ▁D iffer ential ▁diagn osis ▁▁ ▁Blo om ▁synd rome ▁ ▁Corn elia ▁de ▁L ange ▁synd rome ▁ ▁F an con i ▁an emia ▁ ▁N ij m egen ▁break age ▁synd rome ▁ ▁Roberts ▁synd rome ▁ ▁X er oder ma ▁p ig ment os um ▁ ▁Tre at ment ▁ ▁There