Smith–Lemli–Opitz syndrome(or 7-dehydrocholesterol reductase deficiency) The diagnosis of<unk>  can be achieved via molecular testing approaches. Additionally to ascertain if the individual has the condition: * Growth assessment * Thyroid function evaluation * Kidney ultrasound * Echocardiogram Differential diagnosis<unk>  differential diagnosis consists of:
Kaufman oculocerebrofacial syndrome
Smith Martin Dodd syndrome
Joubert syndrome
Foster Kennedy syndrome
TORCH syndrome
Axenfeld–Rieger syndrome
Ring chromosome 14 syndrome
Ring chromosome 20 syndrome