Features include always present findings: Preauricular skin tag, Aplasia cutis congenita, and Hyperpigmented streaks; and very common findings: Limbal dermoid, Abnormal conjunctiva morphology, Agenesis of corpus callosum, and Absent septum pellucidum and others. 67 total HPO annotations.

KRAS encodes KRAS proto-oncogene, GTPase (189 aa). Ras proteins bind GDP/GTP and possess intrinsic GTPase activity. Plays an important role in the regulation of cell proliferation. Highest expression in Nerve Tibial (30.7 TPM) and Brain Cerebellar Hemisphere (25.1 TPM).

Toriello-Lacassie-Droste syndrome is associated with mutations in the KRAS gene on chromosome 12.

KRAS is classified as a druggable target (Clinically Actionable, Drug Resistance, and Enzyme categories) with score 1.0.

Genetic testing for KRAS is available. Testing is considered confirmatory for diagnosis.

Phenotype severity distribution: 3 always present features, 7 very common features, 27 common features.

Estimated prevalence: <1 in 1,000,000 (VERY_RARE).

No clinical trials have been registered for Toriello-Lacassie-Droste syndrome.

7 publications have been identified in PubMed for Toriello-Lacassie-Droste syndrome. Research spans Case Report / Case Series (43%), Review / Meta-Analysis (29%), and Other (14%).

Recent Publications

• Vincent M (2026). [PMID: 42151365](https://pubmed.ncbi.nlm.nih.gov/42151365/). *Commun Med (Lond)*. [Case Report / Case Series]

• Potluri S (2026). [PMID: 41198137](https://pubmed.ncbi.nlm.nih.gov/41198137/). *Cornea*. [Other]

• Hanna H (2025). [PMID: 39644163](https://pubmed.ncbi.nlm.nih.gov/39644163/). *Pediatr Dermatol*. [Case Report / Case Series]

• Azrak O (2025). [PMID: 40750791](https://pubmed.ncbi.nlm.nih.gov/40750791/). *Am J Med Genet A*. [Case Report / Case Series]

• Lopes FCPS (2024). [PMID: 39622606](https://pubmed.ncbi.nlm.nih.gov/39622606/). *Semin Pediatr Neurol*. [Review / Meta-Analysis]

• Morren MA (2024). [PMID: 38290824](https://pubmed.ncbi.nlm.nih.gov/38290824/). *J Med Genet*. [Review / Meta-Analysis]