Management Guidelines
No clinical practice guidelines for GLI3-related Greig cephalopolysyndactyly syndrome (GLI3-GCPS) 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 GLI3-GCPS, the evaluations summarized (if not performed as part of the evaluation that led to the diagnosis) are recommended.
Table 5.
GLI3-Related Greig Cephalopolysyndactyly Syndrome: Recommended Evaluations Following Initial Diagnosis
System/Concern | Evaluation | Comment
Macrocephaly
| Measure head circumference. |
Limb anomalies
| Examine for limb anomalies. | Incl radiographs to assess extent of limb anomalies
Orthopedic eval |
OT/ developmental eval | Determine any functional limitations that would benefit from therapy.
Development
| Developmental assessment | • To incl motor, adaptive, cognitive, speech-language eval
Eval for early intervention/ special education as needed
Neurologic
| Neurologic eval | • EEG if seizures are a concern.
Consider brain imaging if significant developmental delays are present.
Genetic counseling
| By genetics professionals1 | To obtain a pedigree inform affected persons their families re nature, MOI, implications of GLI3-GCPS to facilitate medical personal decision making
Source: GeneReviews — "GLI3-Related Greig Cephalopolysyndactyly Syndrome"
