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 […]
Xeroderma Pigmentosum Causes, Treatment and Prognosis
Xeroderma pigmentosum is a genetic disorder of extreme sensitivity to ultraviolet light and is characterized by photosensitivity, pigmentary changes, premature skin aging, and malignant tumor development. It is transmitted as an autosomal recessive character caused by defective repair of the damage to DNA induced by sunlight. The frequency is about 1 case per 250,000 population […]