Thrombocytopenia-absent radius (TAR) syndrome Overview Thrombocytopenia-absent radius (TAR) syndrome is a rare genetic disorder characterized by the congenital absence of the radius bone in both forearms (with thumbs present) and low platelet count (thrombocytopenia), causing bleeding risks. It is an autosomal recessive condition, often involving mutations in the RBM8A gene. While the first year of life presents the highest risk for severe hemorrhage, prognosis improves as platelet counts often normalize over time. Symptoms Hematologic (Blood): Thrombocytopenia, causing low platelet counts, usually appears at birth or within the first few weeks/months of life. It causes petechiae (tiny purple spots), bruising, and potential hemorrhage. This often improves after the first year. Skeletal (Limbs) : Bilateral absence of the radius (the forearm bone on the thumb side) is a defining feature, resulting in short, malformed forearms. Unlike similar conditions, thumbs are present. Associat...
Treacher Collins Syndrome Overview Treacher Collins syndrome is an extremely rare inherited group of conditions that affect the size, shape and position of your child’s ears, eyes, cheekbones and jaws. The syndrome can cause one or more conditions that affect your child’s ability to nurse or bottle-feed, breathe easily or hear. Another name for Treacher Collins syndrome is mandibulofacial dysostosis. Your child’s symptoms can range from mild and almost unnoticeable to very severe. Most children who have Treacher Collins syndrome have surgery to correct facial differences like cleft palate. Some may need treatment for hearing loss, as well. With treatment and routine healthcare follow-ups, children with Treacher Collins syndrome can live long, healthy lives. Early intervention is key, though. Without treatment, children with Treacher Collins syndrome may develop complications that require lifelong medical care. Treacher Collins syndrome affects approximately 1 in every 50,000 children w...