Table 4. [Recommended Evaluations and Referrals Following Initial Diagnosis of SATB2-Associated Syndrome]. - GeneReviews®

Organ System	Evaluation	Comment
Neurologic	Developmental	W/specific focus on nonverbal language ability
Neuropsychological assessment	For behavioral problems
EEG if seizures suspected	Referral to neurologist for seizure disorder management
Consider head MRI if seizures present
Oropharynx	Examination for palatal anomalies	Referral to craniofacial team or otolaryngologist as needed
Dental, for abnormal tooth shape, number, & location	Referral to dentist
Gastrointestinal	Feeding	Consider videofluoroscopic swallowing study
Growth (weight, length/height, growth velocity)	Consider referral to endocrinologist as needed
Musculoskeletal	Assessment for skeletal anomalies (e.g., scoliosis, kyphosis, tibial bowing)	Referral to orthopedist as needed
Assessment for ↓ bone mineralization (e.g., recurrent fractures, ↑ alkaline phosphatase levels)	Consider bone mineral density scan
Genitourinary	For undescended testes, inguinal hernias, & hypospadias in males
Eyes	Ophthalmology for strabismus & refractive errors	Incl visual acuity & dilated fundus examination
Cardiac	Consider echocardiogram	In those w/larger deletions incl SATB2 & adjacent genes
Miscellaneous/ Other	Physical therapy	If hypotonia present
Consultation w/clinical geneticist &/or genetic counselor

Organ System

Evaluation

Comment

Neurologic

Developmental

W/specific focus on nonverbal language ability

Neuropsychological assessment

For behavioral problems

EEG if seizures suspected

Referral to neurologist for seizure disorder management

Consider head MRI if seizures present

Oropharynx

Examination for palatal anomalies

Referral to craniofacial team or otolaryngologist as needed

Dental, for abnormal tooth shape, number, & location

Referral to dentist

Gastrointestinal

Feeding

Consider videofluoroscopic swallowing study

Growth (weight, length/height, growth velocity)

Consider referral to endocrinologist as needed

Musculoskeletal

Assessment for skeletal anomalies (e.g., scoliosis, kyphosis, tibial bowing)

Referral to orthopedist as needed

Assessment for ↓ bone mineralization (e.g., recurrent fractures, ↑ alkaline phosphatase levels)

Consider bone mineral density scan

Genitourinary

For undescended testes, inguinal hernias, & hypospadias in males

Eyes

Ophthalmology for strabismus & refractive errors

Incl visual acuity & dilated fundus examination

Cardiac

Consider echocardiogram

In those w/larger deletions incl SATB2 & adjacent genes

Miscellaneous/
Other

Physical therapy

If hypotonia present

Consultation w/clinical geneticist &/or genetic counselor

From: SATB2-Associated Syndrome

GeneReviews^® [Internet].

Adam MP, Feldman J, Mirzaa GM, et al., editors.

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