Table 4.

Recommended Evaluations Following Initial Diagnosis in Individuals with SHORT Syndrome

System/ConcernEvaluationComment
Short stature Measure length & weight.
Mild speech delay Assess speech & language in those w/evidence of DD.
Axenfeld-Rieger anomaly or related anterior chamber ocular anomalies Exam by ophthalmologist experienced in mgmt of developmental eye disorders or glaucoma
Hearing loss Hearing assessment
Delayed dentition Dental exam
Insulin resistance / diabetes mellitus Assessment by endocrinologist & consideration of fasting glucose & oral glucose tolerance testThis is important in a person diagnosed w/SHORT syndrome as an older child (age >10 yrs) or later as an adult.
Pulmonary stenosis Echocardiogram
Nephrocalcinosis Abdominal US
Genetic counseling By genetics professionals 1To inform patients & families re nature, MOI, & implications of SHORT syndrome to facilitate medical & personal decision making

DD = developmental delay; MOI = mode of inheritance; US = ultrasound

1.

Medical geneticist, certified genetic counselor, certified advanced genetic nurse

From: SHORT Syndrome

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