Members Login
Search
Wednesday, Dec 03, 2008 | 02:26 PM
Madisons Foundation - Moms And Dads In Search Of Needed Support
m-Power® Rare Pediatric Disease Database
Full disease list by letter:
3 | A | B | C | D | E | F | G | H | I | J | K | L | M | N | O | P | R | S | T | U | V | W | X | Y | Z | All
3 | A | B | C | D | E | F | G | H | I | J | K | L | M | N | O | P | R | S | T | U | V | W | X | Y | Z | All
Trichorhinophalangeal Syndrome Type II
Langer-Giedion syndrome
Trichorhinophalangeal Syndrome Type II (TRPSII) is a rare, inherited, genetic disorder that is characterized by craniofacial, skeletal, and central nervous system anomalies. Various structural abnormalities are the most consistent traits of this disease, yet there is the potential for a number of more serious complications.
...
Trimethylaminaria
Fish Odor Syndrome, Fish Malodor Syndrome, Stale Fish Syndrome
Trimethylaminuria (TMAU) is a metabolic disorder in which an individual is missing the enzyme needed to breakdown a chemical named trimethylamine. Trimethylamine is what makes fish smell fishy. This missing enzyme causes trimethylamine to accumulate in the body and is then released in sweat, urine and breath, giving off a strong fishy odor. Some children with TMAU have a strong odor all the time,...
Trimethylaminuria
Fish Odor Syndrome, Fish Malodor Syndrome, Stale Fish Syndrome
Trimethylaminuria (TMAU) is a rare disorder of metabolism in which the affected individual is unable to properly break down certain chemicals in the body. The result is the build-up of a chemical called trimethylamine, which is released in the sweat, urine, and breath of people with TMAU. Trimethylamine is the same chemical responsible for the distinctness of fish odor, and so these individual...
Trisomy 13
Patau Syndrome
Trisomy 13 is a chromosome abnormality caused by having three copies of chromosome 13. Normally, each person has two copies of every chromosome. One copy comes from the mother, and one copy comes from the father. Children with trisomy 13 have two copies of all their chromosomes and an extra copy of chromosome 13. It is also possible for a child to have an extra copy of only part of chromosome 13, ...
Trisomy 18
Edwards Syndrome
Trisomy 18 syndrome is a genetic disorder that occurs when some or all of the cells of the body have three copies of chromosome 18, instead of the usual two copies. Most fetuses affected with trisomy 18 end in miscarriages. Infants who are born with trisomy 18 can have multiple physical problems affecting their ability to eat, breath, move, and grow. They are generally quite developmentally del...