Ghosal syndrome
Overview
A very rare syndrome characterized mainly by difficult to treat anemia and skeletal abnormalities.
Symptoms
* Anemia * Leukopenia * Thrombocytopenia * Bone marrow abnormalities * Bony outgrowths inside bone
Causes
* 14q+ syndrome - growth retardation * 18p minus syndrome - growth retardation * 1q deletion - growth retardation * 2-Hydroxyglutaricaciduria - developmental delay * 2-methylbutyryl-coenzyme A dehydrogenase deficiency