Researchers have conducted what they say is the largest and most diverse study to date on how recessive genetic changes contribute to developmental disorders. The team, headed by researchers at the ...

In a recent study published in the Journal of Experimental Medicine, researchers identified that individuals with a deficiency of myeloid differentiation primary response 88 (MyD88) and interleukin-1 ...

Chédiak-Higashi syndrome (CHS) is a rare and potentially fatal autosomal recessive disorder. A congenital immunodeficiency, CHS is characterized by frequent bacterial infections, easy bruising, ...

Rothmund-Thomson syndrome is a genetic disorder that causes changes in growth and physical development. It may also lead to certain cancers but may not necessarily shorten a person’s life expectancy.

Geleophysic dysplasia (GD) is an autosomal recessive disease characterized by facial features, short stature, limited joint mobility and cardiovascular and respiratory abnormalities, which can lead to ...

Commenting on the disorder, Consultant Paediatrician and Neonatologist at Sunway Medical Centre Velocity (SMCV) Dr Lee Mei Ling said Roberts syndrome, also known as Pseudothalidomide, is an autosomal ...