Preferred Label : Frontoocular syndrome;
Type : Other, mainly phenotypes with suspected mendelian basis;
Description : 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 suggested that this disorder,
which they called frontoocular syndrome, is an autosomal dominant condition, but could
not rule out the possibility of X-linked dominant inheritance. 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. *FIELD* RF 1. Descartes, M.; Franklin,
J.: The fronto-ocular syndrome: second mother-daughter case. (Letter) Clin. Genet.
65: 501-502, 2004. 2. Schneider, E. N.; Bogdanow, A.; Goodrich, J. T.; Marion, R.
W.; Cohen, M. M., Jr.: Fronto-ocular syndrome: newly recognized trigonocephaly syndrome.
Am. J. Med. Genet. 93: 89-93, 2000. *FIELD* CS Autosomal dominant;
Inheritance : Autosomal dominant;
Prefixed ID : 605321;
Origin ID : 605321;
UMLS CUI : C1854405;
Currated CISMeF NLP mapping
- HPO term(s)
- Semantic type(s)
- UMLS correspondences (same concept)
