Beemer-Langer syndrome

Short rib-polydactyly syndrome (SRPS), Beemer-Langer type is an extremely rare condition that develops before birth or immediately after birth. It is characterized by a very small, narrow chest with ribs that are oriented horizontally. Other features include small pelvic (iliac) bones, short limbs with sometimes bowed long bones, and in rare cases, extra fingers or toes. Brain defects are common, and some cases have been reported with additional features such as cleft lip, missing internal genital organs, and cysts in the kidneys, bile ducts, or pancreas. Due to the severity of these features, the condition is rapidly fatal. This means that the overall outlook is poor, and most affected individuals do not survive long after birth.

People with this condition often have a very small, narrow chest with horizontally arranged ribs. Other symptoms include small pelvic bones, short tubular bones, and bowing of the long bones. In some cases, extra digits (polydactyly) are seen along with brain and facial differences, such as cleft lip, as well as issues in internal organs like the kidneys, bile ducts, or pancreas.

Information about causes is currently limited for this condition.

Information about treatment is currently limited for this condition.

The condition is rapidly fatal, and most affected individuals do not survive long after birth.

Information about current research is currently limited for this condition.