FaCD Online Syndrome Fact Sheet

Last updated: 25 Jan 2010

Name: Giant Diencephalic Hamartoma and Associated Anomalies

Mode of Inheritance: spor/de novo?

Tumor features

diencephalic hamartoma, giant

Non-tumor features

adrenals, small/hypoplastic
anophthalmos
cleft lip
cleft palate
heart, congenital defect
microphtalmia
nails, small, dysplastic
nose, hypoplastic
vertebral anomalies

Comment

Guimiot et al[1] reported on five fetuses with giant diencephalic hamartomas. The midline brain and facial malformations were considered to have developed secondary to the encephaloid tumors. Some extracephalic anomalies were observed as well. No germline mutations in the GLI3 gene or genomic rearrangements were detected. The authors suggest that this disorder is different from Pallister-Hall syndrome.

References

[1] Guimiot F, Marcorelles P, Aboura A, Bonyhay G, Patrier S, Menez F, Drouin-Garraud V, Icowick V, Eurin D, Garel C, Moirot H, Verspyck E, Saugier-Veber P, Attie-Bitach T, Picone O, Oury JF, Verloes A, Delezoide AL, Laquerrière A. Giant diencephalic harmartoma and related anomalies: a newly recognized entity distinct from the Pallister-Hall syndrome.Am J Med Genet A. 2009 Jun;149A(6):1108-15.