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Lathosterolosis

MONDO:0011816

Lathosterolosis is an extremely rare inborn error of sterol biosynthesis characterized by facial dysmorphism, congenital anomalies (including limb and kidney anomalies), failure to thrive, developmental delay and liver disease.

Also known as: lathosterolosis, sterol C5-desaturase deficiency, Sc5D deficiency

3 clinical trials for this condition and its sub-types, 3 tagged with Lathosterolosis itself.

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Where it sits in the disease tree

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Part of

↑ Cholesterol biosynthetic process disease (6)

Including sub-types (3) Tagged with Lathosterolosis (3)

Trials to join now! 1 Completed 1 Terminated 1

New study aims to unlock secrets of rare cholesterol diseases

Knowledge-focused Recruiting now

This natural history study is observing up to 250 people with Smith-Lemli-Opitz syndrome and related cholesterol disorders, as well as their relatives. Researchers will track symptoms, development, and lab results over several years to find better ways to measure disease progress…

Sponsor: Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD) • Aim: Knowledge-focused

Last updated Aug 19, 2026 00:00 UTC

Lathosterolosis

Where it sits in the disease tree

New study aims to unlock secrets of rare cholesterol diseases