Penetrance

Penetrance is thought to be 100%.

Source: GeneReviews — "Saul-Wilson Syndrome"

Diagnostic Criteria

Formal diagnostic criteria for Saul-Wilson syndrome have not been established.

Suggestive Findings

Saul-Wilson syndrome should be suspected in individuals with the following clinical, laboratory, and imaging findings .

Clinical findings

Source: GeneReviews — "Saul-Wilson Syndrome"

Differential Diagnosis

Table 2.

Disorders Interest in the Differential Diagnosis of Saul-Wilson Syndrome

DiffDx Disorder | Cause | MOI | Features of DiffDx Disorder

Overlapping w/SWS | Distinguishing from SWS

Silver-Russell syndrome

| Chromosome 11p15.5- or chromosome 7-related | See footnote 1. | Short stature (largely prenatal onset w/no postnatal catch-up growth); relative macrocephaly w/enlarged anterior fontanelle; frontal prominence; blue sclerae; ivory epiphyses | Limb-length asymmetry, multiple caf au lait spots, hypoglycemia; no spondyloepimetaphyseal changes, ocular signs, hearing loss, neutropenia, or transaminases

Source: GeneReviews — "Saul-Wilson Syndrome"

Management Guidelines

Evaluations Following Initial Diagnosis To establish the extent of disease and needs in an individual diagnosed with Saul-Wilson syndrome, the evaluations summarized (if not performed as part of the evaluation that led to the diagnosis) are recommended. Table 3. Recommended Evaluations Following Initial Diagnosis in Individuals with Saul-Wilson Syndrome

Source: GeneReviews — "Saul-Wilson Syndrome"

Clinical Guidance

Participation in gymnastics and jumping on a trampoline should be avoided until atlanto-axial instability is excluded.

Source: GeneReviews — "Saul-Wilson Syndrome"

Surveillance Guidelines

Table 5. Recommended Surveillance for Individuals with Saul-Wilson Syndrome

Source: GeneReviews — "Saul-Wilson Syndrome"