Figure 1.

Photographs of patient with pathogenic ADNP variants. Note thin, straight, sparse hair; light skin colour; ptosis; high anterior and posterior hairline in both patients (A–C); long and antimongoloid palpebral fissures; strabismus; peculiar upward gaze; low-hanging, everted lower eyelids; an evenly thick helix bilaterally; superior pectus carinatum; inferior pectus excavatum and the scar of previous cardiac surgeries in Patient 1 (A,B). Round face; horizontal palpebral fissures; ptosis; long philtrum; small mouth; thin upper lip; apparent hypotonia (C); 5th finger clinodactyly and prominent distal interphalangeal joint of the 2nd finger (D) can be seen in Patient 2.