[MIM 615 849]

Autosomal dominant transmission with incomplete penetrance and variable expression of a pathogenic mutation of the GLI2 gene (2p14.2).

Other mutations of this gene may lead to type 9 holoprosencephaly (see this term).

Association of:

• post-axial polydactyly (outside the small fingers)
• anomaly of the anterior pituitary gland: especially growth hormone deficiency; sometimes: hypocorticism, hypothyroidism, diabetes insipidus, hypogonadotropic hypogonadism
• typical face: hypotelorism, cleft lip and/or palate

Anesthetic implications:

maintain the substitutive treatment

References :

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Updated: September 2020