Figure 1.

Characteristic Physical Findings in Individuals with SEN Syndrome

Clinical characteristics of SEN syndrome include cutis aplasia of the vertex of the scalp (A, B, and D), minor external ear defects, such as overfolded helix and anteverted ears (C and F), and aplasia of the nipples and sparse or absent secondary sexual hair (G and H). Less common findings include syndactyly and nail dysplasia (E) and craniofacial malformations such as telecanthus, a broad, flat nasal bridge, and frontal bossing (F). Case identifiers E:III-1 (A–C), F:II-1 (F), J:I-1 (D and H), and J:II-1 (E and G) correspond to those in Table 1 and Table S1, where a detailed description of the phenotype of each affected individual is provided.