What kind of malformation is NOT typically seen in Smith-Lemli-Opitz Syndrome?

Smith-Lemli-Opitz Syndrome (SLOS) is characterized by a variety of congenital malformations and developmental issues that arise due to a deficiency in the enzyme involved in cholesterol synthesis. The typical manifestations of SLOS include microcephaly rather than macrocephaly, along with polydactyly, cleft palate, and hypospadias among other features.

Macrocephaly is not a common feature of SLOS, as individuals with this condition often present with microcephaly, which refers to an abnormally small head size. The other options listed—polydactyly, cleft palate, and hypospadias—are frequently observed in patients with SLOS and are part of the spectrum of anatomical anomalies associated with the disorder.

This distinction is crucial for genetic counselors and clinicians when diagnosing and managing patients, as it helps in identifying specific malformations characteristic of SLOS versus other syndromes or conditions that may present with different features. Understanding the typical and atypical presentations of syndromes aids in providing accurate information and support to families affected by genetic disorders.