What is Bannayan zonana syndrome?

Abstract. Background: Bannayan-Zonana syndrome is a rare hamartomatous disorder, characterized by macrocephaly, multiple lipomas, and hemangiomas. Inheritance is by autosomal dominant transmission with few reported sporadic cases. Male predominance is also reported.

What is Ruvalcaba myhre smith syndrome?

Collapse Section. Bannayan-Riley-Ruvalcaba syndrome is a genetic condition characterized by a large head size (macrocephaly ), multiple noncancerous tumors and tumor-like growths called hamartomas, and dark freckles on the penis in males.

What is PTEN hamartoma?

PTEN hamartoma tumor syndrome (PHTS) is disease due to a mutation (an inheritable and harmful change) in the PTEN gene. “Hamartoma” is a general term for a benign, or non-cancerous, tumor-like growth. PHTS includes patients with Cowden syndrome and Bannayan Ruvalcaba-Riley syndrome (BRRS).

Are hamartomas genetic?

PTEN hamartoma tumor syndrome is a genetic condition in which non-cancerous growths, called hamartomas, develop in different areas of the body. In addition to hamartomas, patients can have other physical findings, including larger-than-average head size, abnormal skin growths, and intellectual disabilities.

What is Werner syndrome defective?

Werner syndrome may also be characterized by development of a distinctive high-pitched voice; eye abnormalities, including premature clouding of the lenses of the eyes (bilateral senile cataracts); and certain endocrine defects, such as impaired functioning of the ovaries in females or testes in males (hypogonadism) or …

How are the chromosomes different in Bloom syndrome?

Bloom syndrome is inherited in an autosomal recessive pattern. This means that there is a mutation of both copies of the BLM gene in people with Bloom syndrome; and each parent carries one mutant copy and one normal copy. The causative gene has been mapped to chromosomal location 15q26.