Management Guidelines
No clinical practice guidelines for PIK3R1-related SHORT syndrome 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 PIK3R1-related SHORT syndrome, the evaluations summarized (if not performed as part of the evaluation that led to the diagnosis) are recommended.
Table 5.
PIK3R1-Related SHORT Syndrome: Recommended Evaluations Following Initial Diagnosis
System/Concern | Evaluation | Comment
Growth deficiency
| Assess length, weight, BMI. |
Insulin resistance/
Diabetes mellitus
| • Assessment by endocrinologist
Consideration of fasting glucose oral glucose tolerance test
| Beginning at age 10 yrs
Eye manifestations
| Exam by ophthalmologist experienced in mgmt of developmental eye disorders or glaucoma | To assess for Axenfeld-Rieger anomaly or related anterior chamber ocular anomalies
Dental issues
| Dental exam for delayed dentition other dental issues | Beginning at age 1 yr
Hearing loss
| Hearing assessment |
Mild speech delay
| Assess speech language in those w/evidence of DD. |
Cardiac anomalies
| Echocardiogram |
Connective tissue differences
| • Assess for joint laxity.
Clinical assessment for hernia
|
Frequent infections
| Assess frequency types of infections. |
Nephrocalcinosis
| Consider kidney ultrasound. | Nephrocalcinosis reported in 1 family to date.
Source: GeneReviews — "PIK3R1-Related SHORT Syndrome"
