Midface hypoplasia, broad thumbs or great toes. A spectrum of severity. Saethre-Chotzen: 1 in 100,000. Short forehead, beaked nose, ptosis, incomplete syndactyly.
thumbs or great toes -Midface hypoplasia - BEAK nose -Mild cutaneous syndactyly -Class III malocclusion -Ocular hypertelorism -Shallow orbits / exorbitism -High risk for
Finally, in Pfeiffer syndrome (ACS V) strik- ing features are short and broad thumbs and big toes, the proximal phalanx occasionally being fused with the distal phalanx.