FaCD Online Syndrome Fact Sheet

Last updated: 21 Feb 2008

Name: Congenital Hypothalamic Hamartoma syndrome

Synonym: CHHS

Mode of Inheritance: AR?

OMIM number: 241800

Tumor features

hypothalamic hamartoma / hamartoblastoma

Non-tumor features

nose, short
skeletal dysplasia

Comment

This disorder is characterized by a congenital hypothalamic hamartoma, skeletal dysplasia and orofacial abnormalities (including cleft lip/palate and short nose)[1] This disorder is possibly a variant of Pallister-Hall syndrome.

References

[1] Encha-Razavi F, Larroche JC, Roume J, Migne G, Delezoide AL, Gonzales M, Mulliez N. Congenital hypothalamic hamartoma syndrome: Nosological discussion and minimum diagnostic criteria of a possibly familial form. Am J Med Genet 1992; 42:44-50.