Fig. 1: Physical features of individuals with DOORS syndrome.
From: DOORS syndrome and a recurrent truncating ATP6V1B2 variant
Note onychodystrophy and brachydactyly in all. (a) Individual 4: prognathism, broad nasal ridge, low-set ears, downslanted palpebral fissures, and slight ptosis. (b) Individual 5: broad nasal ridge, downslanted palpebral fissures, and low-set ears. (c) Individual 6: wide base of the nose, downslanted palpebral fissures, long philtrum, and prominent fingerpads. (d) Individual 10: broad nasal ridge and prognathism. (e) Individual 7: bulbous nose, low-set and cupped ears. Radiographs show smaller development and/or delayed ossification of the distal phalanges in both hands and feet.
