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Pfeiffer syndrome is a rare genetic disorder, characterized by the premature fusion of certain bones of the skull ( craniosynostosis ), which affects the shape of the head and face. The syndrome includes abnormalities of the hands and feet, such as wide and deviated thumbs and big toes. Pfeiffer syndrome is caused by mutations in the fibroblast ...
Specialty. Oncology. Multiple endocrine neoplasia type 2 (also known as " Pheochromocytoma (codons 630 and 634) and amyloid producing medullary thyroid carcinoma", [1] "PTC syndrome," [1] and "Sipple syndrome" [1]) is a group of medical disorders associated with tumors of the endocrine system. The tumors may be benign or malignant ( cancer ).
Autoimmune polyendocrine syndrome type 2, a form of autoimmune polyendocrine syndrome also known as APS-II, or PAS II, is the most common form of the polyglandular failure syndromes. PAS II is defined as the association between autoimmune Addison's disease and either autoimmune thyroid disease , type 1 diabetes , or both. [5]
Multiple Endocrine Neoplasia type 1 (MEN1) is a rare hereditary endocrine cancer syndrome characterized primarily by tumors of the parathyroid glands (95% of cases), endocrine gastroenteropancreatic (GEP) tract (30–80% of cases), and anterior pituitary (15–90% of cases). [19] Other endocrine and non-endocrine neoplasms including ...
H&E stain. Specialty. Endocrinology. Multiple endocrine neoplasia type 2B (MEN 2B) is a genetic disease that causes multiple tumors on the mouth, eyes, and endocrine glands. It is the most severe type of multiple endocrine neoplasia, [2] differentiated by the presence of benign oral and submucosal tumors in addition to endocrine malignancies.
Carpenter syndrome. Carpenter syndrome, also called acrocephalopolysyndactyly type II, [1] is an extremely rare autosomal recessive [2] congenital disorder characterized by craniofacial malformations, obesity, syndactyly, and polydactyly. [2] Acrocephalopolysyndactyly is a variation of acrocephalosyndactyly that presents with polydactyly.
1 in 5,000–10,000 [4] Marfan syndrome ( MFS) is a multi-systemic genetic disorder that affects the connective tissue. [6] [7] [1] Those with the condition tend to be tall and thin, with long arms, legs, fingers, and toes. [1] They also typically have exceptionally flexible joints and abnormally curved spines. [1]
Acrocephalosyndactyly. Acrocephalosyndactyly is a group of congenital conditions characterized by irregular features of the face and skull ( craniosynostosis) and hands and feet ( syndactyly ). [1] Craniosynostosis occurs when the cranial sutures, the fibrous tissue connecting the skull bones, fuse the cranial bones early in development.