Mutations in a gene on chromosome 12q2 can produce a wide range of disease phenotypes characteristic of the Holt-Oram syndrome. This gene has an important role in both skeletal and cardiac development.

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These findings suggest that the arthropathy of NOMID is the result of abnormal endochondral bone growth. Further investigation is needed to determine whether this deformity is triggered by inflammation early in development or by CIAS1 mutations causing abnormal chondrocyte apoptosis.

The distance between the midpoint of the distal radial epiphyseal growth plate and the proximal end of the third metacarpal offers a useful measure for determining wrist size. Standards of this distance as compared to intermetacarpal width and second metacarpal length are presented. These measures (or ratios) should be useful in evaluating patients with juvenile rheumatoid arthritis and a number of congenital malformation syndromes, particularly when the carpals are still not fully ossified. Shortening of the carpus occurs in multiple epiphyseal dysplasia, the otopalatodigital syndromes, Turner syndrome, arthrogryposis, and in juvenile rheumatoid arthritis. A relatively large carpus is present in achondroplasia.

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Torg syndrome is a multicentric osteolysis syndrome of unknown etiology. We identified mutations in the MMP2 gene in a patient with Torg syndrome that resulted in complete loss of MMP2 activity. MMP2 mutations were previously identified in patients with NAO and Winchester syndrome. Our findings suggest that Torg, NAO, and Winchester syndrome are allelic disorders.Introduction: Torg, nodulosis-arthropathy-osteolysis (NAO), and Winchester syndrome are a group of autosomal recessive osteolysis syndromes with marked clinical and radiological overlap. It has been suggested that the three conditions are causally related, but molecular evidence for this assumption has been lacking. Recently, mutations in the matrix metalloproteinase 2 gene (MMP2) have been reported in patients with NAO and Winchester syndrome. Materials and Methods:We sequenced the MMP2 gene in a patient with clinical and radiographic findings of Torg syndrome. MMP2 activity was measured with gelatin zymography. Results: Two mutations in the MMP2 gene were identified in this patient. Gelatin zymography indicated complete loss of MMP2 activity. Conclusions: Torg, NAO, and Winchester syndrome are allelic disorders. The name Torg-Winchester syndrome is suggested as a common denominator for this group of disorders.