acro-renal-mandibular syndrome

Acro-renal-mandibular syndrome is a very rare condition that causes multiple congenital anomalies. People with this syndrome may have differences in the development of their limbs and face along with issues in other organs. The syndrome is characterized by split hand-split foot malformation, renal anomalies such as missing or polycystic kidneys, and severe underdevelopment of the mandible (lower jaw). Uterine anomalies can also be present. This overview is based on published information and research that has described these features in affected individuals.

Common signs of this condition include limb deficiencies, such as split hand-split foot malformations, and facial differences like severe mandibular hypoplasia. Renal problems, including possible missing kidneys or polycystic kidney changes, are also part of the syndrome. Uterine anomalies have been noted in some cases as well.

The exact cause of acro-renal-mandibular syndrome is not fully understood. However, an autosomal recessive mode of inheritance has been suggested, meaning that a person would need to inherit two copies of a gene (one from each parent) that carries the mutation to develop the condition. Information about specific genes has not been identified.

Information about treatment options and management approaches is currently limited for this condition.

Information about the outlook and quality of life considerations for people with acro-renal-mandibular syndrome is currently limited.

Information about current research and future directions is currently limited for this condition.