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Madisons Foundation - Moms And Dads In Search Of Needed Support

m-Power® Rare Pediatric Disease Database
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Robinow Syndrome

Robinow Dwarfism, Robinow-Silverman-Smith Syndrome, Fetal Facies Syndrome, Mesomelic Dwarfism-Small
Robinow Syndrome is a genetic disorder that causes abnormal development of the skeleton, face, and genitalia. It is also known as Fetal Facies Syndrome and Robinow Dwarfism due to its characteristic facial features and short stature. ...

Romano-Ward Syndrome

Long QT Syndrome
Romano-Ward syndrome (RWS), or long QT syndrome, is a genetic disorder that causes arrhythmias (abnormal heart beat rhythms). While the heart’s rhythm is normal most of the time in this syndrome, people with long QT syndrome are at risk for sudden arrhythmias that can cause loss of consciousness (syncope) or death. It can be identified before the arrhythmias occur by changes on an EKG, which is a...

Rothmund-Thomsun Syndrome

Poikiloderma congenitale, Poikiloderma Atrophicans and Cataract, Bloch Stauffer Syndrome
Rothmund-Thomson syndrome (RTS) is a very rare genetic disorder that affects many different parts of the body. Children with this disorder have a small amount of hair and this can include the eyebrows and eyelashes. Affected children are usually short and can have bone abnormalities. RTS can also affect the eyes and may cause children to be sensitive to light. There is also an increased risk f...

Roussy-Levy Syndrome

Hereditary Motor Sensory Neuropathy, Hereditary Areflexic Dystasia
Roussy-Levy Syndrome is a rare inherited disorder of the neuromuscular system that is characterized by the development of multiple neurologic deficits during early childhood. This disorder primarily affects the peripheral nerves of the legs, feet, and hands. Peripheral nerves provide an essential relay for signals between the brain/spinal cord and the rest of the body. Disruption in peripheral ner...

Rubinstein-Taybi Syndrome

Rubinstein-Taybi syndrome (RSTS) is a genetic disorder that is characterized by certain facial features, broad thumbs and first toes, and developmental delay. ...
Results Page:   1 | 2 | 3 | 4 | Next

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