Below you will find more information about Short Rib-Polydactyly Syndrome from Medigest. If you believe that you are suffering from any of the symptoms of Short Rib-Polydactyly Syndrome it is important that you obtain an accurate diagnosis from a medical professional to ensure that you obtain the correct medication or treatment for your condition. There are medical conditions that carry similar symptoms associated with Short Rib-Polydactyly Syndrome and therefore the information provided by Medigest is offered as a guideline only and should never be used in preference to seeking professional medical advice. The information relating to Short Rib-Polydactyly Syndrome comes from a third party source and Medigest will not be held liable for any inaccuracies relating to the information shown.
Short rib-polydactyly syndrome is a description for a group of bone growth disorders referred to as skeletal dysplasias, which is commonly known as dwarfism. Any form of short rib-polydactyly syndrome is fatal for newborns because of severe underdevelopment of the lungs causing inability to breathe. There are four closely related dysplasias in Short rib-polydactyly syndrome namely: I-"Saldino-Noonan Type" II- "Majewski Type" III- "Verma-Naumoff Type" IV- "Beemeer-Langer Type"
Prenatal diagnosis for families who are at risk of having the syndrome is through prenatal ultrasound because the main features of SRP syndrome, which are short bones, ribs and small chest are visible in this method. It is very difficult to diagnose Short rib-polydactyly syndrome.
There is no available treatment to cure Short rib-polydactyly syndrome because the abnormal bone development during the prenatal stage is permanent and irreversible. Infants born with Short rib-polydactyly syndrome have poor prognosis, the reason why newborns with this syndrome are given minimum care to keep them warm and comfortable and no extreme measure to prolong life is carried out. They eventually die shortly after birth because of underdeveloped lungs causing inability to breathe.
Symptoms and Signs
Short rib-polydactyly syndrome is a rare genetic disorder marked by the following characteristic symptoms: ò Short stature ò Short ribs ò Bell-shaped torso ò Short measurements of the supposed to be long bones; femur and humerus ò Some cases may show presence of polydactyly, which is the condition of having extra fingers and toes. ò Presence of internal organ abnormalities at birth
The particular cause of Short rib-polydactyly syndrome is unknown but it has been observed that it result to abnormal bone development and growth prenatally.Discuss Short Rib-Polydactyly Syndrome in our forums
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