Clinical Guidance

The FLNA-related otopalatodigital (FLNA-OPD) spectrum disorders, characterized primarily by skeletal dysplasia, include the following allelic conditions: otopalatodigital syndrome type 1 (FLNA-OPD1), otopalatodigital syndrome type 2 (FLNA-OPD2), frontometaphyseal dysplasia type 1 (FLNA-FMD), Melnick-Needles syndrome (FLNA-MNS), and terminal osseous dysplasia (FLNA-TOD). To date, more than 500 individuals with an FLNA-OPD spectrum disorder have been identified [, , , , , ]. The following description of the phenotypic features associated with this condition is based on these reports. Table 4. FLNA-Related Otopalatodigital Spectrum Disorders: Frequency of Select Features

Diagnostic Criteria

The FLNA-related otopalatodigital (FLNA-OPD) spectrum disorders, a heterogeneous group of disorders characterized primarily by a skeletal dysplasia of variable severity, include the following:

• Otopalatodigital syndrome type 1 (FLNA-OPD1)

• Otopalatodigital syndrome type 2 (FLNA-OPD2)

• Frontometaphyseal dysplasia type 1 (FLNA-FMD)

Management Guidelines

No clinical practice guidelines for FLNA-related otopalatodigital (FLNA-OPD) spectrum disorders have been published. In the absence of published guidelines, the following recommendations are based on the authors' personal experience managing individuals with this disorder.

Evaluations Following Initial Diagnosis

To establish the extent of disease and needs in an individual diagnosed with an FLNA-OPD spectrum disorder, the evaluations summarized (if not performed as part of the evaluation that led to the diagnosis) are recommended.

Surveillance Guidelines

To monitor existing manifestations, the individual's response to supportive care, and the emergence of new manifestations, the evaluations summarized in are recommended. Table 8. FLNA-Related Otopalatodigital Spectrum Disorders: Recommended Surveillance