PTEN Hamartoma Tumor Syndrome

**Semantic type:** Disease or Syndrome

**Definition:** 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.

**Synonyms:** - PHTS