The distinct facial feature include upslanting palpebral fissures, a broad nose with rounded tip, long philtrum with a thin upper lip, pointed chin and prominent ears (Vasudevan 2005)
Microcephaly lymphoedema chorioretinal dysplasia
Childhood cataract
Nagayama's spots
Cebocephaly
Koplik's spots
Cystic eyeball
Congenital cataract
Olney's lesions