Cowden syndrome 1

info · Syndrome · ICD-10: Q85.81

A Cowden syndrome that is characterized by macrocephaly, multiple noncancerous tumors and hamartomas, and dark freckles on the penis, and has_material_basis_in heterozygous germline mutation in the PTEN gene on chromosome 10q23.

Signs and symptoms

Mild intellectual disability
Hearing impairment
Carcinoma
Furrowed tongue
Seizure
Narrow mouth
Skin tags
Acrokeratosis
Subcutaneous lipoma
Progressive macrocephaly

Also known as: PHTS; PTEN hamartoma tumor syndrome; PTEN hamartoma tumour syndrome