Zechi-Ceide Syndrome

Clinical Features

Zechi-Ceide et al. (2007) reported 3 sibs, born to consanguineous parents, with occipital atretic cephalocele, hypoplastic cerebellar vermis, Dandy-Walker variant, mental retardation, prominent forehead, short narrow palpebral fissures, midface hypoplasia, broad nose and nasal root, grooved nasal tip and columella, hypoplastic alae nasi with small nares, cleft lip, cleft palate, narrow ears with abnormal helices, antihelices and lobules, narrow auditory canals, oligodontia, large wide feet with a gap between the 1st and 2nd toes, hypoplastic nails, and short metatarsals and distal phalanges. The phenotype was variable in the 3 patients.

Inheritance

Zechi-Ceide et al. (2007) noted that 3 affected sibs of a consanguineous union strongly suggests autosomal recessive inheritance for this disorder.