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Wednesday, Dec 03, 2008 | 12:22 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
Tetrasomy X
Tetra-X Syndrome
Tetrasomy X is a genetic condition in which females have 4 X chromosomes instead of the usual 2. Individuals with tetrasomy X show a very wide range of signs and symptoms, but in general they are tall and have problems with their vision, muscle tone, fertility, learning, behavior, and/or development.
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Thanatophoric Dysplasia
Thanatophoric dysplasia is a form of dwarfism that is often lethal shortly after birth because of severe breathing problems. These children have many skeletal abnormalities so it may be detected during a prenatal ultrasound. There are two types, with type 1 being more common than type 2, but the outcome does not vary between them....
Thrombocytopenia Absent Radii (TAR) Syndrome
Tetraphocomelia-Thrombocytopenia Syndrome
Thrombocytopenia-absent radius (TAR) syndrome is a rare genetic condition that is present at birth. The main features of a newborn with TAR are: thrombocytopenia (a decreased number of platelets necessary for blood clotting) and also the absence of the radius (a bone in the forearm) in both arms. A crucial distinction from other bone marrow failure disorders, such as Fanconi's anemia and Diamo...
Total Anomalous Pulmonary Venous Return (TAPVR)
Total Anomalous Pulmonary Venous Return (TAPVR) is a form of heart problem where the blood vessels from the lungs that supply the heart with oxygen rich blood are connected to an abnormal location within the circulation system. Depending on where these lung vessels (pulmonary veins) rejoin the circulation, there can be a varying amount of abnormal blood flow to the body. Babies are born with TAPV...
Tourette Syndrome
Gilles de la Tourette syndrome, GTS
Tourette syndrome is a neurologic disorder characterized by multiple motor and vocal tics. Motor tics are involuntary and repetitive movements resembling a purposeful movement. Motor tics usually involve the face and shoulders. Vocal tics are similar to motor tics but involve involuntary sounds or speech. In many cases, there are a variety of associated disorders (referred to as co-morbid conditi...