Tarsal carpal coalition syndrome
Overview
A very rare syndrome characterized mainly by fused ankle and wrist bones
Symptoms
The list of medical symptoms mentioned in various sources for Tarsal carpal coalition syndrome includes those listed below. Note that Tarsal carpal coalition syndrome symptoms usually refers to various medical symptoms known to a patient, but the phrase Tarsal carpal coalition syndrome signs may often refer to those signs that are only noticable by a doctor: * Flat foot * Fused ankle bones * Fused wrist bones * Fused finger bones * Fused toe bones * Short fingers * Fused humerus and radius * Walking difficulty * Foot pain
Diagnosis
To identify the gene causing tarsal/carpal coalition syndrome (TCC). METHODS: Individuals from three kindreds with TCC and normal hearing were used to map TCC and screen for mutations in Noggin (NOG). RESULTS: Three different missense mutations in NOG were found. Two of these mutations are identical to mutations previously reported to cause proximal symphalangism (SYM1). CONCLUSIONS: TCC is allelic to SYM1, and at least two different mutations in NOG can result in either TCC or SYM1 in different families. This finding suggests that phenotypic differences between these conditions are caused by epistatic modifiers of NOG.