Patients present with mental and growth
retardation and hypotonia. Clinical features involve the head and neck with
microcephaly, cleft palate, multiple, “cord-like” adhesions between the
lateral aspects of the tongue, the floor of the mouth and the hard palate,
protruding lips, hypoplastic or bifid uvula, micrognathia/retrognathia,
beaked nose, short philtrum, malar hypoplasia, and lacrimal abnormalities.