Clinical Guidance
Lathosterolosis is an ultra-rare disorder of cholesterol biosynthesis. To date, seven affected individuals have been reported [, , , , , , ]. Hence, the full phenotypic spectrum is unknown at present. However, developmental delay, intellectual disability, microcephaly, facial dysmorphisms, cataracts, digit anomalies, and liver involvement appear to be consistent features of this condition . The following description of the phenotypic features associated with this condition is based on the published case reports. Table 2. Lathosterolosis: Frequency of Select Features
Feature | Proportion of Persons w/Feature1 | Comment |
|---|
Global developmental delay/ intellectual disability | 6/6 | Mild to severe |
Microcephaly | 6/6 | — |
Hypotonia | 5/6 | — |
Dysmorphic facial features | 6/6 | Bitemporal narrowing, sloping forehead, epicanthal folds, ptosis, downslanting palpebral fissures, anteverted nares, broad nasal tip, long philtrum, high-arched palate, micrognathia |
Cataracts | 6/6 | — |
Digit anomalies | 6/6 | Postaxial polydactyly, toe syndactyly, /or clinodactyly |
Liver disease | 6/6 | Seven individuals with lathosterolosis have been described in the literature thus far. However, diagnosis was established based on histopathologic and molecular studies of a fetus aborted at 21 weeks' gestation . |
Source: GeneReviews — "Lathosterolosis"
