Differential Diagnosis for Pectus Excavatum and Hypermobility in a Child
- Single most likely diagnosis:
- Marfan Syndrome: This genetic disorder is characterized by tall stature, long limbs, and joint hypermobility, as well as pectus excavatum (sunken chest). The combination of these two symptoms strongly suggests Marfan Syndrome.
- Other Likely diagnoses:
- Ehlers-Danlos Syndrome: This group of genetic disorders affects the body's connective tissue, leading to hypermobile joints, skin hyperextensibility, and other features that may include pectus excavatum.
- Homocystinuria: A genetic disorder that affects the metabolism of the amino acid methionine, leading to symptoms similar to Marfan Syndrome, including pectus excavatum and joint hypermobility.
- Do Not Miss diagnoses:
- Loeys-Dietz Syndrome: A genetic disorder that affects the body's connective tissue, leading to features such as pectus excavatum, joint hypermobility, and an increased risk of aortic aneurysms, which can be life-threatening if not diagnosed and managed properly.
- Osteogenesis Imperfecta: A genetic disorder that affects the production of collagen, leading to fragile bones, joint hypermobility, and other features that may include pectus excavatum. While less likely, the risk of fractures and other complications makes it a "do not miss" diagnosis.
- Rare diagnoses:
- Shprintzen-Goldberg Syndrome: A rare genetic disorder characterized by features such as pectus excavatum, joint hypermobility, and craniosynostosis (premature fusion of the skull bones).
- Gerodermia Osteodysplastica: A rare genetic disorder that affects the body's connective tissue, leading to features such as pectus excavatum, joint hypermobility, and skin wrinkles, giving a prematurely aged appearance.