[The phenotypical symptom complex of connective tissue dysplasia in females]

Connective tissues are one of the four main tissue types in humans that are extensively present in the body. They are characterized by cells embedded in an extracellular matrix (ECM) composed of a ground substance and three main types of protein fibers— collagen, elastic, and reticular fibers. The ground substance of connective tissues can range from a watery and jelly-like consistency to mineralized and hard. The wide variety of cells in the connective tissues include fibroblasts, osteocytes,...

Connective tissue develops from the mesoderm of a developing embryo and consists of cells, fibers, and ground substance: a gel-like material containing large complexes of carbohydrates and proteins. Connective tissue was first identified as a separate tissue family in the 18th century, and Johannes Peter Muller coined the term connective tissue.
Fat cells (adipocytes), smooth muscle cells (myoblasts), and bone cells (osteoblasts) are some connective tissue cell types. Some immune system cells...

The term desmosome derives from the Greek words "desmo" and "soma" meaning "adhesion bodies." This structure was first observed during the late 1800s and described as small, dense nodules in the epidermis. Desmosomes are button-like structures that help form an interlinked network of intermediate filaments across the cells. These junctions are  essential to hold cells together under mechanical stress and to maintain tissue integrity. Desmosomes are multi-protein complexes comprising desmosomal...

Like autosomes, sex chromosomes contain a variety of genes necessary for normal body function. When a mutation in one of these genes results in biological deficits, the disorder is considered sex-linked.Y chromosome mutations are called “Y-linked” and only affect males since they alone carry a copy of that chromosome. Mutations to the relatively small Y chromosome can impact male sexual function and secondary sex characteristics. Y-chromosome infertility is a disorder that affects sperm...

During early development, the embryo forms two types of connective tissues— the mesenchyme and mucoid connective tissue.
The mesenchyme is the first connective tissue that emerges in the developing embryo. It consists of loosely arranged multipotent mesenchymal cells and reticular fibers in the extracellular matrix. This loose arrangement allows easy migration of cells, which is essential for germ layer positioning, patterning, and organ morphogenesis during embryonic development. Mesenchyme is...

Pleiotropy is the phenomenon in which a single gene impacts multiple, seemingly unrelated phenotypic traits. For example, defects in the SOX10 gene cause Waardenburg Syndrome Type 4, or WS4, which can cause defects in pigmentation, hearing impairments, and an absence of intestinal contractions necessary for elimination. This diversity of phenotypes results from the expression pattern of SOX10 in early embryonic and fetal development. SOX10 is found in neural crest cells that form melanocytes,...