Table 3.

Summary of clinical recommendations for assessment

Medical specialty	Common clinical features	Assessments
Clinical genetics	Large fleshy hands	Dysmorphology exam
	Bulbous nose
	Long eyelashes
	Prominent/dysplastic ears
	Hypoplastic/dysplastic nails
	Dolichocephaly
Molecular genetics		Chromosomal microarray
		Chromosome analysis (to identify ring chromosomes)
		Sanger or next generation sequencing (for mutations)
		Fluorescence in situ hybridization (to identify balanced rearrangements in parents)
Psychiatry	Autism spectrum disorder	Gold standard diagnostic assessments
Psychology	Aberrant behavior	Psychiatric evaluation
	Intellectual disability	Cognitive and adaptive behavior testing
	Absent or delayed speech	Speech and language evaluation
Neurology	Seizures	Overnight video electroencephalography
	Structural brain abnormalities	Brain imaging and head circumference monitoring
	Feeding difficulties	Feeding therapy evaluation
	Hypotonia	Occupational and physical therapy evaluations
	Motor skill deficits
Endocrinology	Short/tall stature	Monitor height, weight, and body mass index
	Hypothyroidism	Metabolic work-up, including thyroid function
		Nutritional assessment
Nephrology	Vesicoureteral reflux	Renal and bladder ultrasonography
	Urinary tract infections	Voiding cystourethrogram
	Hydronephrosis	Monitoring of blood pressure
	Renal cysts, hypoplasia, or agenesis
Cardiology	Congenital heart defects	Electrocardiography
		Echocardiography
Gastroenterology	Gastroesophageal reflux	Referral for dietary changes and/or medication
	Constipation/diarrhea	Bowel regimens
	Pica	Referral to behavioral therapy
Primary care/developmental pediatrics	Upper respiratory tract infections	Careful and consistent monitoring and management
	Recurring ear infections	Referral to otolaryngology, ophthalmology, physiatry, dental, and orthopedics
	Hearing and vision problems
	Lymphedema
	Dental problems
	Decreased perspiration/heat intolerance