Articles related to RARE DISEASES

AL amyloidosis can present with distinctive periorbital signs, including petechiae and waxy eyelid papules, which may worsen with trauma.

Yale researchers have developed an AI model capable of diagnosing Marfan syndrome from facial photographs with 98.5% accuracy, potentially enabling earlier intervention for this life-threatening genetic disorder.

The Social Security Administration’s expansion of the Compassionate Allowances program now covers 287 severe health conditions, streamlining the disability benefits process for patients with urgent medical needs.

In a phase 3 trial, oral sebetralstat demonstrated a median time to beginning of symptom relief of 1.61 hours for the 300 mg dose and 1.79 hours for the 600 mg dose, compared to 6.72 hours for placebo in hereditary angioedema attacks.

Lemierre’s syndrome, a rare complication of oropharyngeal infections, can lead to severe neurological manifestations such as cavernous sinus thrombosis and cranial nerve palsies.

Oropharyngeal tularemia can mimic common bacterial pharyngitis, but its rarity and nonspecific symptoms make diagnosis challenging without a high index of suspicion.