Stratton Garcia Young syndrome
Brachydactyly mesomelia intellectual disability heart defects
Type of disease: Rare conditions
Stratton Garcia Young syndrome is a rare combination of birth defects or a syndrome. This syndrome was described in one young man who had short fingers, short forearms (mesomelia, when the middle part of the arm is shorter than normal), intellectual disability, and mitral valve prolapse (a heart condition). The young man also had distinct facial features including a beaked nose, low set ears, high palate and a receded upper jaw bone (maxillary retrusion, which is when the upper jaw or upper part of the mouth is back further than normal. This can be seen most clearly in a side view of the face or profile).
Stratton Garcia Young syndrome is diagnosed by physical exam, x-rays and tests to determine intellectual capability. Many of the birth defects will be noticeable at birth or within the first few years of life. Intellectual disability is also typically diagnosed during the first few years of life with signs like walking and talking late, slow mastering of basic tasks, and having difficulty remembering or understanding. Children with this syndrome are treated depending on their specific birth defects. Doctors can seek help from various therapists and community services to provide support and care for children and adults affected by intellectual disability. Support organizations are also a good resource and can help connect families with other families with children and adults with special needs.