Answer:
Von Hippel-Lindau disease is a hereditary cancer syndrome characterized
by the development of vascular tumors of the central nervous system and
retina, clear cell carcinomas, pheochromocytomas, pancreatic islet cell
tumors, endolymphatic sac tumors, and benign cysts affecting a variety
of organs. Inheritance is autosomal dominant and has been mapped to a tumor
suppressor gene on chromosome 3p25.
Bannayan-Zonana syndrome describes a clinical syndrome with the principal features of macrocephaly, and multiple subcutaneous and visceral lipomas and hemagiomas. Riley-Smith syndrome includes macrocephaly, pseudopapilledema, and multiple hemangiomas. A third syndrome called Ruvalcaba-Myhre-Smith syndrome included hamartomatous intestinal polyps and pigmented spotting of the penis. Recently individuals have been found with features of all three syndromes and the 3 conditions were simply different expressions of a single disorder now renamed Bannayan-Riley-Ruvalcaba Syndrome which has an autosomal dominant inheritance.
Blue Rubber Bleb Nevus is a rare morphogenetic disorder consisting of malformed vascular channels within the skin and bowel. The cutaneous lesions are raised, blue to purple, rubbery, and easily compressible. Other lesions lie deep within the skin, in the mucosa of the GI tract, liver, spleen, and central nervous system. The blebs are sometimes present at birth but more frequently appear throughout adolescence. Local subtotal excision of tender or painful skin lesions can give symptomatic relief.
Osler-Weber-Rendu syndrome is also known as hereditary hemorrhagic telangiectasia. Pathognomonic features of the syndrome are malformed ectatic vessels in the skin, mucous membranes, and viscera appearing after puberty and multiplying with advancing age. Hemorrhage from the lesions manifests as epitaxis, hematemesis, hematuria, or melena. Genetic transmission follows an autosomal dominant pattern.
Beckwith-Wiedemann Syndrome includes macroglossia, omphalocele, postnatal somatic giganticism, hyperplasia of the kidneys, pancreas and adrenals. The major effect of the macroglossia is protrusion of the dentoalveolar structures resulting in anterior open bite and a prognathic mandibular appearance. Partial glossectomy has resulted in decreased anterior open bite. Inheritance is autosomal dominant.
Anderson-Fabry disease is an X-linked recessive disorder, characterized
by a deficiency of the lysosomal enzyme alpha-galactosidase A. The entity
is also known as angiokeratoma corporis diffusum. The lesions are typical
telangiectases. The vascular lesions are usually found between the waist
and upper thighs. Progressive renal failure is common and is a major cause
of death.