A Glasgow mum is hoping people will send her sick boy birthday cards in hospital. Beau Pallester was taken to the Intensive Care Unit at the Queen Elizabeth University Hospital last November after ...

The four-year-old, from Whiteinch, has Waardenburg-Shah syndrome and Hirchsprung’s disease, which means he struggles with mobility and is non verbal. Beau Pallester (Image: Sourced) Beau is ...

Peripheral demyelinating neuropathy, central dysmyelinating leukodystrophy, Waardenburg syndrome and Hirschsprung disease (PCWH) is a rare manifestation of Waardenburg-Shah syndrome associated with ...

Waardenburg syndrome, MITF-related, golden hamster (MONDO:1012677) X-linked progressive retinal atrophy 2, RPGR-related, dog (MONDO:1012702) osteogenesis imperfecta, CREB3L1-related, domestic cat ...

including ciliopathies such as Usher and Bardet-Biedl syndrome, mitochondrial DNA disorders and systemic diseases, such as CHARGE, Stickler, Waardenburg, Alport and Alstrom syndrome. The retinal ...

7. Syndromes associated with hearing loss or progressive or late-onset hearing loss,* such as neurofibromatosis, osteopetrosis and Usher syndrome; other commonly identified syndromes include ...

A mixed pattern of hair pigmentation, normal hair color mixed with hypopigmented hair, is associated with Cross syndrome (also known as oculocerebral syndrome or hypopigmentation syndrome).

Asperger's syndrome refers to a high-functioning form of autism. Although it was once classified as its own condition, Asperger’s is no longer an official diagnosis in the Diagnostic and ...

The cone dystrophies are a heterogeneous group of inherited disorders that result in dysfunction of the cone photoreceptors and sometimes their post-receptoral pathways. The major clinical ...

Metabolic syndrome is a constellation of conditions that together increase the risk of type 2 diabetes, stroke, and cardiovascular problems, including heart attack. The features of metabolic syndrome ...