Management Guidelines
No clinical practice guidelines for SALL1-related Townes-Brocks syndrome (SALL1-TBS) 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 SALL1-TBS, the evaluations summarized (if not performed as part of the evaluation that led to the diagnosis) are recommended.
Table 4.
SALL1-Related Townes-Brocks Syndrome: Recommended Evaluations Following Initial Diagnosis
System/Concern | Evaluation | Comment
Gastrointestinal
| • Referral to surgeon for anal anomalies if present
Assessment for constipation /or gastroesophageal reflux
|
Hearing
| Hearing eval (See Genetic Hearing Loss Overview.) |
Musculoskeletal
| • Clinical assessment for upper- lower-extremity anomalies
Radiographs as recommended by orthopedist
| Referral to orthopedist as needed
Kidney
| • Renal ultrasound
Assessment of kidney function w/serum electrolyte concentrations, BUN, creatinine
|
Genitourinary anomalies
| Referral to urologist/gynecologist as needed |
Cardiac
| Eval by cardiologist w/echocardiogram |
Neurodevelopment
| Developmental assessment | • To incl motor, adaptive, cognitive, speech-language eval
Eval for early intervention/ special education
Neuropsychiatric eval | For persons age 12 mos: screening for behavior concerns
Endocrine
| Assessment for growth deficiency | Referral to endocrinologis...
Source: GeneReviews — "SALL1-Related Townes-Brocks Syndrome"
