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 featureshypothalamic hamartoma / hamartoblastoma
Non-tumor featurescraniofacial 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.
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