How do you recognize this developmental disorder and more importantly... how do you treat it?

A newly identified severe congenital syndrome of deafness, blindness, albinism, and dense fragile bones can arise when two people, each of whom have a rare, specific form of deafness, have children, ...

Before this, he couldn't breathe properly. Crouzon syndrome is a rare genetic condition affecting about 1 in 60,000 births.

Even when promising clinical trials exist, and the FDA allows expanded access, rare disease patients like my granddaughter ...

CBF Supports International Angelman Syndrome Day During BrasileirãoCredits: CBF and Angelman BrasilFor the first time, the ...

Most parents worry about scraped knees, tumbles on the playground or gym class injuries. But for the Raia and Tisdale families, their everyday fears are life-threatening: a seizure that can strike ...

Feb 9 (Reuters) - Regenxbio said on Monday the U.S. Food and Drug Administration had declined to approve its gene therapy for ...

Marion, 35, is trying to raise awareness of Marcus Gunn syndrome after finding out her true diagnosis through TikTok.

Source: Mark L. Ruffalo, D.Psa., L.C.S.W. Psychosis has historically been defined as "the loss of contact with reality" and can be observed in various mental disorders, including schizophrenia, ...