National Organization for Rare Disorders

Farber lipogranulomatosis, or simply Farber’s disease, is a lysosomal storage disorder that involves the hydrolysis and use of lipids. A lysosomal storage disorder is a defect in the function of a lysosome, enzymes that hydrolyze large molecules and then move the fragments on to other parts of the cell for other uses. Farber’s disease is a rare, genetic condition that involves a deficiency in the enzyme, ceramidase. Ceramidase is a lysosomal acid that causes cell growth, cellular differentiation…

I chose to write about melorheostosis. This disorder usually affects the arms and legs and is normally only on one side of the body. The common symptom of melorheostosis is irregular bone growth such as thickening and widening of the bones. Since it only effects on side of the body, this causes the limbs to be uneven in length. Other symptoms can include pain, swelling, stiffness, unable to use full range of motion, swelling of the joints and abnormal muscles. The exact cause of melorheostosis…

Maple Syrup Urine Disease (MSUD) is a rare, autosomal recessive metabolic disorder in which the body is unable to process certain amino acids properly. It causes brain damage and progressive nervous system degeneration. MSUD is caused by mutations in three different genes: BCKDHA, BCKDHB and DBT (Warrell, Cox and Firth, 2012). The BCKDHA gene causes MSUD Type Ia due to the mutation in the E1α subunit, BCKDHB causes Type Ib due to the mutation in the E1ᵦ subunit, and DBT causes Type II due to…

to the National Organization for Rare Disorders (2016), Klippel-Feil syndrome (KFS) is a rare disorder of the skeletal system characterized by cervical spine fusion of two or more vertebrae. The disorder was first documented in 1912 by two doctors Maurice Klippel and Andre Feil (NORD, 2016). Individuals with KFS often exhibit the hallmark features such as a short neck, low hairline, and limited neck mobility. Additional associated malformations may include scoliosis, hearing loss, disorders of…

The term Trisomy describes the presence of an additional chromosome. Trisomy 13 is a chromosomal disorder that affects either all or a portion of the 13th chromosome. Each person is given a set of chromosomes, one from mom and the other from dad. During embryo development, the 13th chromosome takes on an additional set from either parent. This results in a set of three chromosomes. The severity of the abnormality associated with Trisomy 13 depends on the specific location and percentage…

Bipolar Disorder. 2. What is the definition of your disorder? What might be physical/noticeable characteristics of this disorder? A mental condition marked by alternating periods of elation and depression is the definition of Bipolar Disorder. Physical/ noticeable characteristics of this disorder is that you can see the person experiencing mood episodes.The moods are: excessively happy, overly thrilled and too sad. Source-NIMH,…

surprise that most Americans have some familial connection to an individual who has or is suffering some form of senile dementia. This frightens some Americans, not only for the safety of their relatives, but because they fear they may inherit the disorder. This is a legitimate concern as only one in four people with Alzheimer’s Disease have been diagnosed ("Alzheimer's Statistics." Alzheimers.net.). Though Alzheimer’s is a disease that afflicts people of all ages, the frequency of which this…

Overview: What is Williams Syndrome? Definition: Williams Syndrome is a genetic disorder, resulting from the deletion of 26 or more genes one chromosome number 7 (Mervis et al., 2000). That seemingly small loss can affect numerous parts of a person’s physical and mental health, as well as social behavior and sensory perception (Genetics Home Reference, 2014). Diagnosis: Williams Syndrome is a genetic condition that a child is born with and it can impact a child’s prenatal development as well…

the lungs. In some cases, this means the lungs can’t supply the body’s other organs with enough oxygen” (“What Is LAM? - NHLBI, NIH.”). Therefore, LAM can be considered a “multisystem” disorder with symptoms affecting various parts of the body (“Lymphangioleiomyomatosis - NORD (National Organization for Rare Disorders).”). The symptoms, and the severity of them, depends on the type of LAM , such as “Sporadic LAM” or LAM in conjunction with the disease tuberous sclerosis complex. Regardless, some…

someone with a disorder, such as autism spectrum disorder. However, as different as people think autism spectrum disorder is, it is not as different as people believe. In fact, autism is becoming more common today than it ever has before. It is just a disorder that is not well known as of yet. In order to have an idea of what autism spectrum disorder is, the first step is understanding what autism spectrum disorder is. Autism spectrum disorder, or ASD, is a complex developmental disorder that…