Rare Disease Intelligence

Larynx atresia is a congenital malformation of the larynx that occurs when the laryngotracheal tube fails to recanalize during fetal development. This...

Larynx liposarcoma is a rare malignant tumor that arises from adipose tissue within the larynx, most often affecting the supraglottic region. It predo...

Larynx verrucous carcinoma is a well-differentiated, non-metastasizing squamous cell carcinoma that arises in the larynx. It is characterized by a slo...

Late congenital syphilis is a condition resulting from the transmission of syphilis from a pregnant individual to her child, with clinical manifestati...

Late infantile CACH syndrome is a condition about which only limited clinical data is currently available. The underlying genetic cause and age of ons...

Late infantile neuronal ceroid lipofuscinosis is a form of neuronal ceroid lipofuscinosis that primarily affects the nervous system, leading to a decl...

Late yaws is the tertiary stage of yaws, a non-contagious treponemal infection found in tropical regions. It is marked by destructive and deforming le...

Late-adult onset retinitis pigmentosa is a form of retinal degeneration that typically presents in the fifth or sixth decade of life. It is characteri...

Late-onset Parkinson disease is a neurological movement disorder that typically begins after the age of 50. While it primarily affects motor control,...

Late-onset Steinert myotonic dystrophy is a condition that primarily affects muscle function and may involve other organ systems as it progresses. Bec...

Late-onset familial hypoaldosteronism is a rare condition characterized by a reduction in aldosterone production accompanied by elevated renin activit...

Late-onset focal dermal elastosis is an acquired disorder of the skin characterized by a papular eruption that closely resembles pseudoxanthoma elasti...

Late-onset isolated ACTH deficiency is an acquired endocrine disorder characterized by deficient production of ACTH leading to secondary adrenal insuf...

Late-onset localized junctional epidermolysis bullosa-intellectual disability syndrome is a very rare condition that presents with skin fragility lead...

Late-onset nephronophthisis is a kidney disorder that typically presents later in life and is characterized by progressive decline in kidney function....

Late-onset retinal degeneration is an inherited retinal dystrophy that primarily affects the retina, leading to visual difficulties that become appare...

Latent yaws describes a stage of a treponemal infection in which an individual does not show overt symptoms despite having been infected. This conditi...