Table 3 Summary of clinical recommendations for assessment

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