by Remember The Girls | Jan 3, 2022
Back to Previous TARP Syndrome TARP syndrome is a rare condition affecting males that causes several birth defects. TARP stands for Talipes equinovarus, Atrial septal defect, Robin sequence, and Persistent left superior vena cava. Those with TARP syndrome have...
by Remember The Girls | Jan 2, 2022
Back to Previous Wiskott-Aldrich Syndrome Wiskott-Aldrich syndrome is characterized by abnormal immune system function (immune deficiency), eczema (an inflammatory skin disorder characterized by abnormal patches of red, irritated skin), and a reduced ability to form...
by Remember The Girls | Jan 1, 2022
Back to Previous Terminal Osseous Dysplasia Terminal osseous dysplasia with pigmentary defects (TODPD) is an X-linked dominant syndrome with distal limb anomalies and pigmentary skin defects. We have previously described this syndrome in several females from a large,...
by Remember The Girls | Jan 1, 2022
Back to Previous Xq28 Duplication Syndrome The int22h1/int22h2-mediated Xq28 duplication syndrome is an X-linked intellectual disability syndrome characterized by variable degrees of cognitive impairment (typically more severe in males), a wide spectrum of...
by Remember The Girls | Jan 1, 2022
Back to Previous X-linked Adrenal Hypoplasia Congenita X-linked adrenal hypoplasia congenita is a disorder that is noticeable from birth (congenital) and affects the development of the adrenal glands, which are hormone-producing (endocrine) organs (glands) located on...
