Figure 5.

Facial features of individuals with proximal and distal truncating SRCAP variants

Phenotype of nine individuals with the proximal and three individuals with the distal truncating SRCAP gene variants. Photos at age of 2, 8, and 25 years are available for the proximal SRCAP individual #9. Shared facial (non-specific) phenotypic features of the proximal SRCAP group individuals are seen: long face and long, wide philtrum, prominent forehead, thin upper lip vermilion and everted lower vermilion, wide mouth, typical (narrow) palpebral fissures, epicanthal folds, periorbital fullness, wide nasal bridge, prominent ears, and retro- or prognathia. Distal SRCAP individual #4 has some FLHS facial features although he does not have short stature or other typical FLHS features and has Marfanoid habitus with pectus excavatum (similarly to distal SRCAP individual #1).