Conditions / Syndrome
multicentric carpotarsal osteolysis syndrome
info · Syndrome
A syndrome characterized by progressive loss of bone, typically involving the carpal and tarsal bones, and in many cases chronic renal failure that has_material_basis_in heterozygous mutation in the MAFB gene on chromosome 20q12.
Signs and symptoms
- Carpal osteolysis
- Inability to walk
- Wrist pain
- Osteolysis involving tarsal bones
- Ankle pain
- Bilateral elbow dislocations
- Bilateral renal atrophy
- Hypertension
- Micrognathia
- Triangular face
Also known as: MCTO; autosomal dominant multicentric osteolysis; hereditary osteolysis of carpal bones with or without nephropathy; idiopathic multicentric osteolysis with or without nephropathy; multicentric carpo-tarsal osteolysis with or without nephropathy