Principal features of the Nablus mask-like facial syndrome include, striking, expressionless, facial appearance with a long face; upswept frontal hairline with normal hair; tight glistening facial skin with small palpebral fissures; apparent hypertelorism; sparse almost absent eyebrows, bulbous nose with prominent columella; long upper and everted lower lip; maxillary hypoplasia; longitudinal cheek dimples; and abnormal posteriorly angulated ears without lobules. Other parts of the body including skin, nails, and genitalia are unremarkable. Worldwide, only few cases are reported in the literature with this syndrome to date.
Teebi (2000) described a 4-year-old boy from the city of Nablus with strikingly unusual facial mask-like appearance. The parents were phenotypically normal and non-consanguineous. The patient's twin sister was phenotypically normal. Another 7-year-old brother was also normal. The affected child appeared unusual at birth, whereas his twin sister appeared normal. His psychomotor development was normal. On examination he was interactive and apparently intelligent boy. Teebi (2000) concluded that the appearance was apparently unique and different from that in urofacial syndrome. Raas-Rothschild et al. (2009) reexamined the boy with Nablus mask-like facial syndrome originally described by Teebi (2000), now 10 years of age. His psychomotor development was normal, and his cryptorchidism had been surgically repaired. His height was at the 5th centile with a head circumference at the 2nd centile, and his ear length was 3rd centile with an abnormal shape and unfolded helix; he also had blepharophimosis, telecanthus, flat broad nasal bridge, bluish- and tight-appearing skin around the nose, upsweep of frontal hair, and bilateral Spigelian hernias of the abdominal wall. He had an unaffected twin sister and healthy, non-consanguineous parents. Raas-Rothschild et al. (2009) identified in this boy a 3.37-Mb deletion on chromosome 8q22.1, from 92.99 Mb to 96.36 Mb.