Table 4. [Simpson-Golabi-Behmel Syndrome Type 1: Recommended Evaluations Following Initial Diagnosis]. - GeneReviews®

System/Concern	Evaluation	Comment
Oropharynx	Assess for macroglossia & orofacial clefting.	Referral to craniofacial team incl feeding specialists
Eyes	Ophthalmologic exam
Ears/Hearing	Audiologic eval
Cardiac	Consider chest radiograph, EKG, & echocardiogram.	To evaluate for structural heart defects & conduction abnormalities
Respiratory	Assess for upper-airway sufficiency & signs/symptoms of sleep apnea; consider formal sleep study.	Particularly in those w/hypotonia & macroglossia
Renal	Exam for hypospadias & undescended testes in males; renal ultrasound to assess for renal anomalies	Referral to urologist as needed
Abdomen/Pelvis	Abdominal/pelvic ultrasound to initiate tumor screening	Further studies (e.g., MRI) may be indicated if findings are suspicious for a tumor.
Measurement of serum AFP	As a baseline screen for hepatoblastoma
Musculoskeletal	Clinical eval for scoliosis	Particularly during times of rapid growth
Neurologic	Neurologic eval, head MRI, &/or EEG	If concerns for seizures
Endocrinologic	Assessment for hypoglycemia	In neonates
Development	Developmental assessment	Incl speech-language assessment
Genetic counseling	By genetics professionals ¹	To inform affected persons & their families re nature, MOI, & implications of SGBS1 to facilitate medical & personal decision making
Family support & resources	By clinicians, wider care team, & family support organizations	Assessment of family & social structure to determine need for: Community or online resources such as Parent to Parent Social work involvement for parental support Home nursing referral

System/Concern

Evaluation

Comment

Oropharynx

Assess for macroglossia & orofacial clefting.

Referral to craniofacial team incl feeding specialists

Eyes

Ophthalmologic exam

Ears/Hearing

Audiologic eval

Cardiac

Consider chest radiograph, EKG, & echocardiogram.

To evaluate for structural heart defects & conduction abnormalities

Respiratory

Assess for upper-airway sufficiency & signs/symptoms of sleep apnea; consider formal sleep study.

Particularly in those w/hypotonia & macroglossia

Renal

Exam for hypospadias & undescended testes in males; renal ultrasound to assess for renal anomalies

Referral to urologist as needed

Abdomen/Pelvis

Abdominal/pelvic ultrasound to initiate tumor screening

Further studies (e.g., MRI) may be indicated if findings are suspicious for a tumor.

Measurement of serum AFP

As a baseline screen for hepatoblastoma

Musculoskeletal

Clinical eval for scoliosis

Particularly during times of rapid growth

Neurologic

Neurologic eval, head MRI, &/or EEG

If concerns for seizures

Endocrinologic

Assessment for hypoglycemia

In neonates

Development

Developmental assessment

Incl speech-language assessment

Genetic counseling

By genetics professionals ¹

To inform affected persons & their families re nature, MOI, & implications of SGBS1 to facilitate medical & personal decision making

Family support
& resources

By clinicians, wider care team, & family support organizations

Assessment of family & social structure to determine need for:

Community or online resources such as Parent to Parent
Social work involvement for parental support
Home nursing referral

From: Simpson-Golabi-Behmel Syndrome Type 1

GeneReviews^® [Internet].

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

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