Gardners syndrome (also known as Gardner syndrome, familial polyposis of the colon, or familial colorectal polyposis) is a subtype of familial adenomatous polyposis (FAP). Gardner syndrome is an autosomal dominant form of polyposis characterized by the presence of multiple polyps in the colon together with tumors outside the colon. The extracolonic tumors may include osteomas of the skull, thyroid cancer, epidermoid cysts, fibromas, as well as the occurrence of desmoid tumors in approximately 15% of affected individuals. Desmoid tumors are fibrous tumors that usually occur in the tissue covering the intestines and may be provoked by surgery to remove the colon. The countless polyps in the colon predispose to the development of colon cancer; if the colon is not removed, the chance of colon cancer is considered to be very significant. Polyps may also grow in the stomach, duodenum, spleen, kidneys, liver, mesentery, and small bowel. In a small number of cases, polyps have also appeared in the cerebellum. Cancers related to Gardner syndrome commonly appear in the thyroid, liver and kidneys. The number of polyps increases with age, and hundreds to thousands of polyps can develop in the colon. The syndrome was first described in 1951. There is no cure at this time, and in its more advanced forms, it is considered a terminal diagnosis with a life expectancy of 35–45 years; treatments are surgery and palliative care, although some chemotherapy has been tried with limited success.
Other abnormalities include deformation of ribs, absence of pectoralis muscle, hypoplasia or abnormalities of breast and subcutaneous tissue. Patients may also have webbed fingers on one hand, short bones in the forearm or sparse underarm hair. Al Awadi/Raas-Rothschild syndrome
Al Awadi/Raas-Rothschild syndrome is a rare genetic disorder. Symptoms are often associated with absence or maldevelopment of skeletal part of limbs. Scalp-ear-nipple syndrome
As the name suggests, Scalp-ear-nipple syndrome is characterized by congenital absence of skin, abnormalities of scalp, malformation of ear structures, and undeveloped nipples. Mechanism
Mammary glands are arranged in breasts of the primates to produce milk for feeding offspring. They are enlarged and modified sweat glands. In the embryological development, mammary glands firstly appear after six weeks of pregnancy in the form of ectodermal ridges. The ectodermal ridge grows thicker and compresses to form mesoderm. As the proliferation persists, mesodermal layer continues to form clusters. The clusters grow and become lobules. At the same time, the clusters also form a pit, which protrudes to generate the nipples. Impairment in some of these processes may cause aplasia of the breast tissue, which may result in amastia.For example, in normal condition, mammary ridge (milk line) would extend from the bilateral axillary tail to the inguinal region. If this extension does not occur in normal way, the breast would not develop successfully.Amastia may also be caused by the inability of producing parathyroid hormone related protein. The absence of this protein will disrupt the normal development of mammary gland.