Albinism is of a group of inherited disorders characterized by a congenital reduction or absence of melanin pigment due to defective production of melanin from tyrosine. An estimated 1 in 17,000 people have one of the types of albinism. Oculocutaneous albinism is the most common type of albinism Both males and females can be affected. […]
Genetic Diseases
Glucose 6 Phosphate dehydrogenase deficiency or G6PD Deficiency
Glucose 6 Phosphate dehydrogenase deficiency is the most common metabolic disorder of red blood cells. It is a genetic disorder in which there is deficiency of enzyme Glucose-6-phosphate dehydrogenase or G6PD in the blood. This enzyme plays a role in Hexose monophosphate pathway [a metabolic pathway involved in formation of precursor for the synthesis of […]
Skeletal Dysplasia Causing Short Limbs
Short limbs may be due to many causes. Dysplasia is a term that is used to denote abnormality in maturation of cells within a tissue. That means that the tissue developed would have abnormalities. The skeletal development can be hampered by many causes and is classified according to the embryological segment affected. Following types of […]
Metatropic Dwarfism
Metatropic dwarfism or metatropic dysplasia I is a rare genetic disorder characterized by extremely small stature, with short arms and legs. Other characteristics of this disorder are a narrow thorax, short ribs, and kyphoscoliosis (backward and sideways curvature of the spinal column) which develops into short trunk dwarfism. Metatropic dwarfism manifests at birth with short […]
Aarskog Syndrome – Symptoms and Treatment
Aarskog syndrome is a rare genetic disorder manifested by retarded growth that occurs by three years of age, facial, musculoskeletal and genital anomalies, and mild intellectual disability. The disorder occurs in 1 in 1 million individuals in the general population. Some mild cases often go unrecognized. Causes of Aarskog Syndrome Aarskog syndrome is transmitted as […]