, also known as '''acrocephalosyndactyly type 3''' (ACS III) and '''Chotzen syndrome''' is a very rare
Congenital syndrome characterised by
Craniosynostosis (premature closure of one or more of the sutures between the bones of the
Skull ). It is an
Autosomal dominant disorder with the error being in the
TWIST Transcription Factor .
pattern.]]
Classic features include:
#
Synostosis of the
Coronal Suture s of the skull resulting in characteristic
Faces including
Ptosis , facial asymmetry and small ears
#syndactyly of the fingers, particularly of the second and third digits
#Intelligence is usually normal. Some affected individuls may have mild to moderate mental retardation.
The incidence of this rare syndrome is estimated at between 1 in 25-50,000 live births.
