HMGB1-related brachyphalangy, polydactyly and tibial aplasia syndrome

HMGB1-related brachyphalangy, polydactyly and tibial aplasia syndrome is a rare disorder caused by a change in the HMGB1 gene. It is a complex malformation syndrome where people can have differences in the development of their limbs, including shortened digits (brachydactyly and brachyphalangy) and issues with the tibia, which may be missing or underdeveloped. Extra fingers (polydactyly) and joint contractures may also be seen. In addition, the condition is associated with other features such as a small head (microcephaly), malformed ears, and a narrower opening of the eyelids (blepharophimosis). Many people with this condition may also have developmental delays, hearing problems, and differences in the genitourinary system.

Common symptoms include differences in the hands and feet, such as brachydactyly, brachyphalangy, and extra digits (polydactyly). People may have issues with the tibia, which may be absent or underdeveloped, and they can experience contractures in large joints. Other signs include a small head (microcephaly), malformed ears, and a narrow eye opening (blepharophimosis). Developmental delays, hearing impairment, and genitourinary anomalies are also observed.

This condition is caused by a variation in the HMGB1 gene. Changes in this gene affect normal body development, particularly in the formation of the limbs and other physical features. The exact mechanisms are still being studied.

Information about treatment is currently limited for this condition.

Information about prognosis is currently limited for this condition.

Information about research is currently limited for this condition.