What is Short Rib Polydactyly Syndrome?
Short Rib Polydactyly Syndrome is a description for a lethal category of bone growth disorders known as skeletal dysplasias or, more commonly, dwarfism. SRPS is generally characterized by short ribs, a bell-shaped torso, and short measurements of the long bones (femur and humerus).
However, not all cases of SRPS demonstrate polydactyly, the presence of extra fingers and toes. All forms of SRPS are lethal to newborns.
Four distinct forms of SRPS have been established, although features and symptoms frequently overlap. SRPS is also closely associated with Asphyxiating Thoracic Dysplasia (Jeune's Syndrome) and Chondroectodermal Dyplasia (Ellis-Van Creveld Dysplasia). The four types of SRPS are:
Researchers have yet to identify the gene mutation or mutations that cause SRPS. However, SRPS is believed to be inherited in an autosomal recessive manner, due to its recurrence among children of unaffected parents. (For more information on autosomal recessive inheritance, click here.) Currently, the only method of prenatal diagnosis is ultrasound.
- Type I, Saldino-Noonan
- Type II, Majewski
- Type III, Verma-Naumoff
- Type IV, Beemer-Langer
At present, the International Skeletal Dysplasia Registry at Cedars-Sinai Medical Center in Los Angeles, California, is undertaking research to identify the SRPS gene mutation(s). To participate, please send an e-mail to the Registry [Maryann.firstname.lastname@example.org ] or call at 1.310.423.9861.
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