FaCD Online Syndrome Fact Sheet

Last updated: 21 Feb 2008

Name: Holoprosencephaly-Diencephalic Hamartoblastoma association

Synonym: HDH

Mode of Inheritance: AR /de novo AD / chrom / teratogene

Tumor features

hypothalamic hamartoma / hamartoblastoma

Non-tumor features

craniofacial dysmorphisms
ears, malformed
facies, asymmetric
heart, congenital defect
holoprocencephaly
lung hypoplasia
mandible, hypoplasia of
rib anomalies

Comment

Castori et al reviewed[1] the holoprosencephaly-diencephalic hamartoblastoma (HDH) association. This is a heterogeneous group of disorders sharing hypothalamic hamartoblastoma and degrees of holoprocencephaly, additional structural brain and meningeal abnormalities, craniofacial dysmorphisms and additional extra-cephalic malformations. Etiology is diverse.

References

[1] Castori M, Douzgou S, Silvestri E, Encha-Razavi F, Dallapiccola B. Reassessment of holoprosencephaly-diencephalic hamartoblastoma (HDH) association. American journal of medical genetics. Part A 2007; 143(3):277-84.