Table 2.

GLI3-Related Pallister-Hall Syndrome: Frequency of Select Features

FeatureFrequency of Feature 1Comment
Hypothalamic hamartoma +++
Polydactyly +++Postaxial or mesoaxial
Epiglottis abnormalities ++
Behavioral manifestations +
Genitourinary anomalies +
Pulmonary segmentation anomalies +
Imperforate anus +
Oligodactyly +

+++ = common; ++ = seen in many affected persons; + = seen in some or a few affected persons

1.

Even these coarse estimates of the frequency of specific features are likely to be heavily skewed by phenotypic ascertainment bias. It is likely that the overwhelming majority of diagnosed individuals were ascertained because they had a hypothalamic hamartoma and polydactyly. Therefore, to assert that these malformations are common in GLI3-PHS is circular reasoning. This bias can only be resolved by studies using broad-based exome or genome testing of individuals with a wide range of features.

From: GLI3-Related Pallister-Hall Syndrome

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