Single most likely diagnosis
- Marfan Syndrome: This genetic disorder is characterized by tall stature, long limbs, and fingers (arachnodactyly), as well as a predisposition to aortic aneurysms and brain hemorrhages due to vascular fragility.
Other Likely diagnoses
- Ehlers-Danlos Syndrome: A group of disorders that affect connective tissues, leading to hypermobile joints, skin hyperextensibility, and tissue fragility, which can increase the risk of brain hemorrhages.
- Homocystinuria: A metabolic disorder that can cause blood clots and vascular problems, leading to brain hemorrhages, and is also associated with Marfanoid features such as long fingers.
Do Not Miss (ddxs that may not be likely, but would be deadly if missed.)
- Aneurysms (e.g., berry aneurysms): These can cause brain hemorrhages and may be associated with conditions like polycystic kidney disease or may be idiopathic.
- Arteriovenous Malformations (AVMs): Abnormal connections between arteries and veins that can rupture and cause brain hemorrhages.
Rare diagnoses
- Loeys-Dietz Syndrome: A rare genetic disorder that affects the blood vessels and is characterized by features such as long fingers, similar to Marfan Syndrome, but with a higher risk of vascular rupture.
- Stickler Syndrome: A genetic disorder that affects connective tissue and can cause eye, joint, and hearing problems, as well as a predisposition to brain hemorrhages due to vascular abnormalities.