label: PTEN Hamartoma Tumor Syndrome
label_lc: pten hamartoma tumor syndrome
description: "A rare, autosomal dominant hereditary syndrome caused by germline mutation in the PTEN gene. It manifests with macrocephaly, neurocognitive deficits, hamartomas in multiple locations, polyposis, vascular abnormalities, and an increased risk of developing malignant tumors, particularly breast, thyroid, and endometrial carcinoma."