Members Login
Search
Friday, Jan 09, 2009 | 02:37 PM
Madisons Foundation - Moms And Dads In Search Of Needed Support
Short Rib-Polydactyly Syndrome I-IV
SRPS type 1-4, polydactyly with neonatal chondrodystroply type 1-4, Saldino-Noonan type [type1], Maj
Sunday, 14 August 2005
Last Updated Sunday, 14 August 2005
What
Short rib-polydactyly syndrome describes a group of lethal skeletal disorders that are inherited in an autosomal recessive manner.Who
SRP syndromes are very rare, hence the precise incidence is unknown.Signs and Symptoms
The syndromes are characterized by an underdeveloped narrow chest, short ribs, short limbs, the presence of more than five digits on the hands and/or feet (called polydactyly), and abnormal internal organs. The children are born with the disorder and it is obvious at the time of birth. There are four different types that are distinguished mostly by slightly different associated findings, as listed below. There is speculation that these are not different disorders, but a spectrum of different appearances to the same disorder. Additional signs more specific to each type: SRPS type 1: - The ends of the long bones are not formed properly, the limbs are small and the bones may not harden properly. The kidneys have cysts and there areas in the intestines and urinary tract that do not connect with each other. The infants often have swelling and congestive heart failure at birth. SRPS type 2: - Babies with this type have a cleft lip and palate, and the long bone in the shin is unusually short. The kidneys have cysts and there areas in the intestines and urinary tract that do not connect with each other. They do not have the heart failure found in type 1. SRPS type 3: - Similar to type 1, but there are abnormalities in the structure of the skull that are different from infants with type 1. They do not have the heart problems as found in the infants with type 1. SRPS type 4 - Similar findings to the other forms, but without excess fingers or toes.Possible Causes
These disorders are caused by changes in the genes, but the exact genes that cause the syndromes are not yet known. The disease can be found in families, and parents usually have about a 25% chance that another child they have will also be affected.Diagnosis
It is possible to detect this disorder before the child is born from an ultrasound by observing the bone abnormalities. However, it may not be possible to say exactly which disorder the child has based only on the ultrasound. It is usually possible to tell whether the bone abnormalities are associated with infant survival or not. Upon birth, x-rays are used to define the bone malformations.Treatment
Because of the severity of the skeletal problems, there is currently no cure and no adequate treatment for these conditions.Prognosis
Because the skeletal abnormalities do not allow the lungs to develop properly, unfortunately, children with these disorders do not survive long after birth.Connect with other parents
In the spirit of community and support, Madisons Foundation offers the unique service of connecting parents of children with rare diseases. If you would like to be connected to other parents of children with this disease, please fill out this brief form.Weblinks
SRPS Family Network
A website for families who have had a baby with SRPS. They offer email discussion forums and other forms of support.