Extended Data Fig. 1: Clinical findings in BPTAS individuals.

(a-c) I1 at age of 9 months. (a) Palmar view, left hand: brachydactyly and reduced creases of fingers. (b) Right foot: preaxial polysyndactyly, syndactyly between the second and third toes, increased soft tissue of distal toes in the dorso-ventral axis, hypoplastic/missing nails. (c) Malformed upper and lower limbs, contractures of large joints. (d-i) I2. (d) Lateral babygram (after birth): normal lateral spine apart from limb anomalies. (e-f) X-rays of upper extremities: contractures of the elbows, dislocation of the radius head, short radius and ulna, short middle phalanges. (g-i) I2, photos at age of 11 years. Plantar and dorsal views of the feet: preaxial polysyndactyly, hypoplastic nails. (j-l) I4. (j) Left foot, (k) Right foot, (l) Right hand. Radiograms of the feet at the age of 6 months showing symmetrical preaxial polysyndactyly. Radiogram of the right hand at age of 6 months: Note retarded bone age and short tubular bones, the middle phalanges are slightly more affected than the other ones. (m-r) I5 at 21 weeks of gestation. (m) Note webbed elbows. (n) Contractures of large joints. (o) Dorsal view of hands showing brachydactyly with hypoplastic nails. (p) Abnormal female genitalia. (q-r) Radiograms of the lower extremities and pelvis: hypoplastic iliac wings, lack of tibiae, hypoplastic fibulae, and preaxial polydactyly of feet. (s) Histogram of the syndromes suggested among the top-10 Face2Gene-suggestions of the images of individuals affected with BPTAS and the composite mask of this syndrome showing telecanthus and blepharophimosis.