This syndrome is characterised by the association of Pierre Robin sequence (retrognathia, cleft palate and glossoptosis) with facial dysmorphism (high forehead with frontal bossing) and digital anomalies (tapering fingers, hyperconvex nails, clinodactyly of the fifth fingers and short distal phalanges, finger-like thumbs and easily subluxated first metacarpophalangeal joints). It has been described in two half brothers born to the same mother. Growth and mental development were normal.
* Tapered fingers * Hyperconvex nails * Webbed fifth fingers * Short end bones of fingers * Finger-like thumb
It is proposed that the diagnosis of acrania requires assessment of both parents and proband to assess other manifestations of vascular disruption in order to provide accurate genetic counselling