Kabuki syndrome is a rare congenital malformation with typical facial features, skeletal anomalies, delayed neuropsychomotor development and growth, and cardiac, genitourinary, gastrointestinal, ...

"It's estimated there are anywhere from 7,000 to 10,000 rare diseases, but there are only ICD codes for about 500 rare diseases." Researchers could obtain data on 379 rare diseases based on their ...

With over 40% of all medicines in the pipeline aimed at rare diseases, the future looks positive for increasing the number of treatments available. However, as Ben Hargreaves discovers ...

Klinefelter syndrome is a genetic condition that affects only males. Here's what you should know about the causes, symptoms, and treatment options for the condition. Klinefelter syndrome is a genetic ...

June 10, 2024 — Scientists have grown 'mini-guts' in the lab to help understand Crohn's disease, showing that 'switches' that modify DNA in gut cells play an ... Major Cause of Inflammatory ...

13, 2025 — Testosterone treatment significantly reduces mortality among men with Klinefelter syndrome ... Complications Linked to Cardiovascular Disease in the Family Feb.

Neurodegenerative diseases are a heterogeneous group of disorders that are characterized by the progressive degeneration of the structure and function of the central nervous system or peripheral ...

14, 2025 (GLOBE NEWSWIRE) -- Oryzon Genomics, S.A. (ISIN Code: ES0167733015, ORY), a clinical-stage biopharmaceutical company leveraging epigenetics to develop therapies in diseases with strong unmet ...

The current price of SuperRare (RARE) is $0.069785, as of Feb 20, 2025. Over the last 24 hours, the price has moved by 1.54%, with a change of 0.76% in the past hour. For longer-term performance, the ...

It is important to identify infants of affected women as high-risk infants. Scrutinize the maternal history and, when possible, determine the specific EDS type of the mother or affected family ...

The most common form of facial paralysis is idiopathic—that is, Bell's palsy. Sjögren's syndrome (SS), a chronic inflammatory disorder characterised by lymphocytic infiltration of exocrine glands ...

Respiratory tract diseases are illnesses that affect components of the respiratory system, including the nasal passages, the bronchi and the lungs. They range from acute infections, such as ...