MedGen

Blepharophimosis-impaired intellectual development syndrome (BIS) is a congenital disorder characterized by a distinct facial appearance with blepharophimosis and global development delay. Affected individuals have delayed motor skills, sometimes with inability to walk, and impaired intellectual development with poor or absent speech; some patients show behavioral abnormalities. There are recognizable facial features, including epicanthal folds, sparse eyebrows, broad nasal bridge, short nose with downturned tip, and open mouth with thin upper lip. Other more variable features include distal skeletal anomalies, feeding difficulties with poor growth, respiratory infections, and hypotonia with peripheral spasticity (summary by Cappuccio et al., 2020). [from OMIM]

A clinical syndrome of fever, sore throat, fatigue, and lymphadenopathy caused by infection with the Epstein-Barr virus. Subsequent physical findings may include hepatomegaly, palatal petechiae, jaundice, uvular edema, and splenomegaly. [from NCI]