Figure 1

Clinical photographs of our cohort. Upper row (A-F): Facial phenotypes. Facial phenotype is characterized by a broad face, flat midface, synophrys and/or prominent eyebrows, almond shaped eyes, low nasal bridge, prominent columella of the nose, hypoplastic alae nasi, and macrostomia. A: Patient 1 (family A) at age 19 years, B: Patient 2 (brother of Patient 1, family A) at age 11 years, C: Patient 4 (family B) at age 15 years, D: Patient 5 (family B) at age 38 years, E: Patient 6 at age 7 years, F: Patient 7 at age 5 years. Depending on the ethnic background, synophrys can be only very mild or even absent in individuals with light skin and hair pigmentation (e.g. Patients 6 and 8). Middle row (G-K) Hands of patients in our cohort with proximally inserted thumbs and short distal phalanges. G: Patient 1. H: Patient 2. I: Patient 3. J: Patient 4. K: Patient 6. Lower row (A-F) Feet. L: Patient 1 with onychodystrophy especially of the first and fifth toe nail (on the right respectively left hand side). M: Patient 2 with onychodystrophy and sandal gap. N: Patient 3 with sandal gap (status after trauma of the first toe nail). O: Patient 4 with pes cavus. P: Patient 6 with clubbed toe nail.