Oculodentodigital dysplasia: ulnar-sided syndactyly and its associated disorders.

PURPOSE

Hand surgeons are often the first specialists to see patients with oculodentodigital dysplasia (ODDD), when infants with ulnar-sided syndactyly are referred. Major associated problems include neurologic, ophthalmologic, dental, and other skeletal abnormalities. The purposes of this study were to investigate the incidence of the reported associated conditions in the families of our patients with ODDD, correlate them with the severity of syndactyly, and provide better counseling with more accurate information for these patients and families.

METHODS

We reviewed medical records from Texas Scottish Rite Hospital for Children from 1980 to 2009 to identify patients with ODDD. These patients and families were invited to return for a detailed medical and family history and physical examination documenting hand, foot, eye, dental, and facial findings.

RESULTS

A total of 73 pediatric patients from 47 families were diagnosed with ODDD, and 38 individuals in 31 families agreed to participate in the study. We observed bilateral syndactyly in 32 patients, with symmetric involvement in 31 of these. Abnormalities of the shape and size of the middle phalanx of the small finger were common. Ophthalmological findings were present in 31 and dental abnormalities identified in 33 patients. Neurologic findings likely related to ODDD were found in 11 patients. There appeared to be an association between the severity of syndactyly and the severity of dental and urologic findings, but not ophthalmologic or neurologic findings such as paraparesis or cognitive deficits.

CONCLUSIONS

We found a 29% incidence of neurologic manifestations in patients with ODDD. In addition, associated ophthalmologic, dental, and developmental conditions are frequent and a heightened awareness will allow appropriate referrals for patients with ulnar-sided syndactyly in ODDD.

TYPE OF STUDY/LEVEL OF EVIDENCE: Prognostic IV.