There are many conditions that are listed as a rare disease by the Office of Rare Diseases of the National Institutes of Health. These diseases only affect approximately 200,000 people in the United States. Diseases such as ABCD syndrome, Richter syndrome, Pancreatic Adenoma and Say syndrome are just a few of the rare diseases that many have never heard of before.

ABCD SYNDROME

ABCD syndrome is an inherited autosomal recessive syndrome. ABCD is an acronym for Albinism, Black Lock, Cell Migration disorder of the neurocytes of the gut and sensorineural deafness.

The signs of ABCD syndrome include abnormal gastrointestinal tract, albinism, autosomal recessive inheritance, deafness, feeding difficulties in infancy, hearing loss, Hirschsprung’s disease, Polyglobulia, retinal albinism, stillbirth or neonatal death and severe vision loss.

Symptoms include deafness, intestinal dysfunction, albinism, black lock of hair and lack of nerves in small intestine.

ABCD syndrome is a variant of Shah-Waardenberg syndrome. It is caused by a mutation in the endothelin B receptor gene.

RICHTER SYNDROME

Richter syndrome is a rare and aggressive type of acute adult leukemia. It is also referred to a Richter transformation.

Symptoms include fever, loss of weight and muscle mass, sudden swelling of lymph nodes, night sweats, sickness or abdominal pain. The symptoms come on quickly and you become very sick.

PANCREATIC ADENOMA

Pancreatic Adenoma is a tumor in the pancreas that can be benign or malignant.

Symptoms depend on the size and location of the tumor. They include abdominal pain, nausea, vomiting, biliary obstruction, low blood sugar, increased insulin secretion, increased gastrin secretion, sweating, diarrhea, weight loss.

SAY SYNDROME

Say syndrome was first described in 1975. Characteristic signs of the syndrome include cleft palate, microcephaly, large ears, short stature and transient low blood glammaglobulin levels.

Other signs and symptoms include a small head, reduced muscle tone, finer anomalies, hypospadias, developmental delay, delayed bone age, Robin Sequence, kidney abnormalities, low set thumbs, tapered end bones in fingers and curved middle fingers.

This is only a small sample of rare diseases. There are more than 6,000 diseases listed by the Office of Rare Diseases. Many of these diseases are genetic.