This book describes Nail Patella Syndrome, Diagnosis and Treatment and Related Diseases
Nail-Patella Syndrome (NPS) is a rare inherited disorder characterized by abnormalities of the nails, knees, e……続きを見る
Sickle cell anemia is the most common form of sickle cell disease (SCD).
SCD is a serious disorder in which the body makes sickle-shaped red blood cells.
Sickle-shaped means that the red blood cells……続きを見る
Charcot-Marie-Tooth disease (CMT) is one of the most frequent inherited neurological disorders, involving about 1 in 2,500 people in the USA.
CMT, also termed hereditary motor and sensory neuropathy……続きを見る
Marfan's Syndrome is an inherited disorder of the connective tissue involving the collagen and glyccosamino-glycans tissue.
It is characterized by generally weak connective tissue which includes mus……続きを見る
Lynch syndrome is an inherited medical disorder that confers a person a higher risk of cancers of the digestive tract, gynecologic tract, and other organs.
In Singapore Lynch syndrome has an estimat……続きを見る
Klinefelter Syndrome is an inherited disorder of the sex chromosome in which an extra X chromosome is present (XXY)
Klinefelter syndrome is a genetic disorder that happens in males with an extra X c……続きを見る
Neurofibromatosis is a genetic medical disorder causing tumors in the skin, nervous system and skeleton.
The neurofibromatoses are autosomal dominant genetic disorders that consist of the rare disea……続きを見る
A hemangioma is a medical disorder that causes abnormal buildup of blood vessels in the skin or internal organs.
A hemangioma is a group of blood vessels that develop like a lump under the skin
It h……続きを見る
Turner Syndrome is an inherited disorder of the sex chromosome in which one of the X chromosomes is missing (XO)
It happens only in females and is linked with amenorrhea and infertility.
Turner synd……続きを見る
Friedreich ataxia is a rare disease and the most frequent inherited ataxia.
It is a degenerative disorder that mainly affects the nervous system, muscles and the heart.
It is often linked with cardi……続きを見る
Lowe syndrome (oculocerebrorenal syndrome) is characterized by:
Vision disorders such as clouding of the lenses of the eyes (cataracts) that are present at birth,
Kidney disorders that normally ……続きを見る
Fanconi syndrome is a medical disorder of the tubes of the kidney in which some substances normally re-absorbed into the bloodstream by the kidneys are excreted into the urine instead.
Fanconi syndr……続きを見る
Williams syndrome is an infrequent disorder that can result in physical and mental development.
It is inherited (passed down in families).
Most people with Williams Syndrome are as friendly, happy a……続きを見る
Chapter 1
Polycythemia vera
What is Polycythemia Vera?
Polycythemia vera (PV) is a medical bone marrow disorder in which there is an uncontrolled proliferation of the blood cells.
All the blood cell……続きを見る
This book describes Hypertrichosis (Werewolf syndrome), Diagnosis and Treatment and Related Diseases
While reading about genetic diseases, I came across this disease called hypertrichosis (which mea……続きを見る
This book describes Fatty Acid Oxidation Disorders, Diagnosis and Treatment and Related Diseases
Fatty acid oxidation disorders (FODs) are a cluster of genetic metabolic disorders that are featured ……続きを見る
This book describes Fibrodysplasia Ossifican Progressiva, Diagnosis and Treatment and Related Diseases
It is hard to believe that genetic mutations can produce abnormal human illnesses such as the S……続きを見る
This book describes Gaucher Disease, Diagnosis and Treatment and Related Diseases
I first came across a rare case of Gaucher Disease in a small boy in Singapore and the parents told me that they are……続きを見る
This book describes CPT Deficiency, Diagnosis and Treatment and Related Diseases
I was watching this show DIAGNOSIS on Netflix which featured a girl named Angel with symptoms included muscle pain, a……続きを見る
This book describes Elephant Man Disease, Diagnosis and Treatment and Related Diseases
Elephant Man Disease is a rare disorder featured by overgrowth of different tissues of the body.
The cause of t……続きを見る
This book describes Osler's Disease, Diagnosis and Treatment and Related Diseases
Osler disease is an inherited blood vessel disease that produces bleeding from the mucous membranes of the nose, gas……続きを見る
This book describes Hemochromatosis, Diagnosis and Treatment and Related Diseases
Hemochromatosis (iron overload) is a disease in which too much iron accumulates in the body.
In hemochromatosis, iro……続きを見る
This book describes The Inverted Person (Situs Inversus), Diagnosis and Treatment and Related Diseases
While working in the hospital, I was asked to examine a patient of 45years old who came in comp……続きを見る
This book describes Paroxysmal Nocturnal Hemoglobinuria, Diagnosis and Treatment and Related Diseases
Paroxysmal nocturnal hemoglobinuria is a rare genetic disorder in which the red blood cells brea……続きを見る
The purpose of this book will be threefold. First, it will seek to demonstrate that racism is a disease, a mental illness. Its symptoms are similar to those of the disease of alcoholism. Second, tha……続きを見る
This book describes Fragile X Syndrome, Diagnosis and Treatment and Related Diseases
Fragile X syndrome (FXS) is a genetic disorder, the second most frequent cause of genetically linked mental defic……続きを見る
This book describes Tuberous Sclerosis, Diagnosis and Treatment and Related Diseases
Tuberous sclerosis complex (TSC) is a genetic disorder that is typically featured by hamartomas in many organs, b……続きを見る
This book describes Genetic Diseases, Diagnosis and Treatment and Related Diseases
A genetic disease is a disease produced by an abnormality in the genetic makeup of an individual called a variation……続きを見る
This book describes Hereditary Spherocytosis, Diagnosis and Treatment and Related Diseases
Hereditary spherocytosis is a rare medical disorder of the surface layer of red blood cells.
It results in ……続きを見る
This book describes Polydactyly, Diagnosis and Treatment and Related Diseases
Recently I had a female patient whom I observed had 6 fingers on her both hands with an extra small finger.
Astrologers ……続きを見る
