Among the group of craniodigital syndromes, patients with Ja- wad syndrome have a striking congenital microcephaly, mod- erate to severe intellectual disability, white spots on the skin of the hands and feet, anonychia congenita, polydactyly of fm- gers and toes and syndactyly of the second and third toe (syn- polydactyly) of variable degree. Here, I report two further fam- ilies of Jawad syndrome form Pakistan. I present the detailed clinical analysis along with the identification of a mutation (c.l808-180