Frontoocular Syndrome

Clinical Features

Schneider et al. (2000) reported a mother and her 2 daughters with an apparently novel syndrome including the features of trigonocephaly due to coronal and metopic craniosynostosis, hypotelorism, proptosis, ptosis, epicanthal folds, hypoplastic supraorbital ridges, elevated nasal bridge, thin philtrum, high-arched palate, and a narrow bifrontal region. Both daughters also had congenital heart disease; one had valvar pulmonary stenosis and the other an atrial septal defect. Mutation analysis of FGFR1 (136350) and FGFR2 (176943) failed to identify any mutations. The authors called the disorder frontoocular syndrome.

Descartes and Franklin (2004) described a second case of mother and daughter with frontoocular syndrome. The patients had all the features described in the original report in addition to 2 anomalies not previously described, namely imperforate anus and rectovaginal fistula. The authors pointed out that in each report the parents of the mother were unaffected but were advanced in age at the time of conception.

Inheritance

Schneider et al. (2000) suggested that the frontoocular syndrome is an autosomal dominant condition, but could not rule out the possibility of X-linked dominant inheritance.