Patients in the EU with Fanconi anaemia (FA ... FA is an inherited syndrome that impairs the body’s chromosomal repair systems, causing bone marrow failure, and leads to congenital malformations ...

Other genetically established anomalies such as Fanconi disease, Bloom syndrome, xeroderma pigmentosum, familial polyposis, Gardner syndrome, hereditary malignant melanoma and dysplastic nevus ...

Helen Jackson's toddler, misdiagnosed with flu, was later found to have acute lymphoblastic leukemia after her condition worsened. Gracie, 2, underwent immediate treatment, including chemotherapy ...

The US Food and Drug Administration (FDA) has approved treosulfan (Grafapex, Medexus Pharmaceuticals) in combination with fludarabine as a preparative regimen to clear bone marrow before ...

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).

Fanconi anemia (FA) is a rare genetic disorder characterized by defective DNA repair, leading to hematopoietic stem cell (HSC) dysfunction and bone marrow failure. Replication stress, which ...

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 ...

Medically reviewed by Soma Mandal, MD Petechiae are tiny red, purple, or brown spots on your skin, inside of your mouth, or ...

Multiple endocrine neoplasia type 1 (MEN1) is a hereditary tumor syndrome characterized by tumors of the parathyroid glands, the pancreatic islets, the pituitary gland, the adrenal glands ...

This important study addresses the idea that defective lysosomal clearance might be causal to renal dysfunction in cystinosis. With mostly solid data, the authors observe that restoring expression of ...