RNU4ATAC spectrum disorder

RNU4ATAC spectrum disorder is a rare condition that affects the growth and development of people. It is known for causing slower growth, a smaller head size (microcephaly), and differences in bone structure (skeletal dysplasia). These features are often noticed early in life and may be accompanied by challenges in learning and thinking. Beyond these primary signs, the disorder can affect many parts of the body. Some individuals may experience brain anomalies, seizures, or strokes. There can also be issues with the heart, immune system, eyes, skin, kidneys, digestive system, hearing, and hormone regulation. The condition includes what has been described as Microcephalic osteodysplastic primordial dwarfism type I/III (MOPDI), Taybi-Linder syndrome, Lowry-Wood syndrome, and Roifman syndrome. This wide range of possible symptoms means that people with this condition might experience different health challenges, and the severity can vary greatly from one person to another.

People with RNU4ATAC spectrum disorder often show signs such as growth restriction, microcephaly (a small head size), skeletal dysplasia, and cognitive impairment, which includes difficulties with learning and thinking. In addition, there is a possibility of other symptoms, such as brain anomalies, seizures, strokes, and issues with the heart and immune system. Some individuals may also experience problems with vision, skin, kidney function, digestion, hearing, and hormone balance. The range and severity of these symptoms can vary among people with this condition.

Information about causes is currently limited for this condition.

Information about treatment is currently limited for this condition.

Information about prognosis is currently limited for this condition.

Information about current research is currently limited for this condition.