Table 4. [Recommended Evaluations Following Initial Diagnosis in Individuals with Myhre Syndrome]. - GeneReviews®

System/Concern	Evaluation	Comment
Constitutional	Measurement of growth parameters	To assess for growth restriction & short stature
Craniofacial	Physical exam for evidence of cleft lip & palate Assessment for velopharyngeal insufficiency	If present, consider referral to multidisciplinary craniofacial center.
Cardiovascular	Measurement of upper- & lower-extremity blood pressure	To assess for aortic obstruction & systemic hypertension Consider referral to nephrologist for those w/systemic hypertension.
2D echocardiography w/Doppler	To assess for structural heart disease, vasculopathy, & cardiac function; if abnormal, refer to cardiologist. CT angiogram, MRA, or cardiac catheterization of aorta may be indicated to document characteristic hemodynamics of restrictive cardiomyopathy & assess for vasculopathy.
Respiratory	Assess for airway stenosis by least invasive means possible.	Auscultation & observation w/& w/o activity for signs of upper-airway obstruction incl noisy breathing, work of breathing, & oxygen saturation
Consider assessment of pulmonary function & oxygen saturation levels.	To assess for obstructive &/or restrictive lung disease
Consider polysomnography.	For sleep disturbance & obstruction
Gastrointestinal	Assessment for recurrent vomiting & chronic constipation	Low threshold to image for concern of pyloric or other stenosis of GI tract Intestinal obstruction may contribute to constipation. Hirschsprung disease has been reported.
Developmental	Developmental assessment	To incl motor, adaptive, cognitive, & speech-language eval Eval for early intervention / special education, ABA therapy
Psychiatric/ Behavioral	Neuropsychiatric eval	In persons age >12 mos: screen for concerns incl sleep disturbances, anxiety, &/or findings suggestive of ASD.
Musculoskeletal	Orthopedics / physical medicine & rehab / PT & OT eval	To incl assessment of: Gross motor & fine motor skills ↓ range of motion of joints (OT modifications may be indicated.) Mobility, ADL, & need for adaptive devices Need for PT (to improve gross motor skills) &/or OT (to improve fine motor skills)
Consider skeletal survey.	To assess for bony anomalies
Eyes	Ophthalmologic eval	To assess for strabismus, refractive error, & cataracts Give special attention to optic nerve.
Hearing	Audiologic eval	Assess for degree & type of hearing loss.
Integument	Dermatologic eval	Assess for hyperkeratosis pilaris & abnormal scarring.
Immunologic	Quantitate serum immunoglobulins to assess for immunoglobulin deficiency	If affected person has excessive infections If abnormal, consider referral to immunologist.
Endocrinologic	Evaluate for pubertal status in children & adolescents, & for signs/symptoms of menstrual irregularities in females.	To assess for premature puberty (in both sexes), premature ovarian failure, & secondary amenorrhea
Assess for signs & symptoms of insulin-dependent diabetes.	This finding is more common in older adults.
Neoplasia	Currently there are no tumor surveillance guidelines for Myhre syndrome.	It remains unclear whether persons w/Myhre syndrome are at ↑ risk of malignancy over general population risk.
Genetic counseling	By genetics professionals ¹	To inform affected persons & their families re nature, MOI, & implications of Myhre syndrome to facilitate medical & personal decision making
Family support & resources	Myhre Syndrome Foundation (MSF)	Assess need for social work involvement for parental support. Consider palliative care counseling to support family & affected person when there are serious complications (e.g., cardiopulmonary, airway, or neoplastic involvement).

System/Concern

Evaluation

Comment

Constitutional

Measurement of growth parameters

To assess for growth restriction & short stature

Craniofacial

Physical exam for evidence of cleft lip & palate
Assessment for velopharyngeal insufficiency

If present, consider referral to multidisciplinary craniofacial center.

Cardiovascular

Measurement of upper- & lower-extremity blood pressure

To assess for aortic obstruction & systemic hypertension
Consider referral to nephrologist for those w/systemic hypertension.

2D echocardiography w/Doppler

To assess for structural heart disease, vasculopathy, & cardiac function; if abnormal, refer to cardiologist.
CT angiogram, MRA, or cardiac catheterization of aorta may be indicated to document characteristic hemodynamics of restrictive cardiomyopathy & assess for vasculopathy.

Respiratory

Assess for airway stenosis by least invasive means possible.

Auscultation & observation w/& w/o activity for signs of upper-airway obstruction incl noisy breathing, work of breathing, & oxygen saturation

Consider assessment of pulmonary function & oxygen saturation levels.

To assess for obstructive &/or restrictive lung disease

Consider polysomnography.

For sleep disturbance & obstruction

Gastrointestinal

Assessment for recurrent vomiting & chronic constipation

Low threshold to image for concern of pyloric or other stenosis of GI tract
Intestinal obstruction may contribute to constipation.
Hirschsprung disease has been reported.

Developmental

Developmental assessment

To incl motor, adaptive, cognitive, & speech-language eval
Eval for early intervention / special education, ABA therapy

Psychiatric/
Behavioral

Neuropsychiatric eval

In persons age >12 mos: screen for concerns incl sleep disturbances, anxiety, &/or findings suggestive of ASD.

Musculoskeletal

Orthopedics / physical medicine & rehab / PT & OT eval

To incl assessment of:

Gross motor & fine motor skills
↓ range of motion of joints (OT modifications may be indicated.)
Mobility, ADL, & need for adaptive devices
Need for PT (to improve gross motor skills) &/or OT (to improve fine motor skills)

Consider skeletal survey.

To assess for bony anomalies

Eyes

Ophthalmologic eval

To assess for strabismus, refractive error, & cataracts
Give special attention to optic nerve.

Hearing

Audiologic eval

Assess for degree & type of hearing loss.

Integument

Dermatologic eval

Assess for hyperkeratosis pilaris & abnormal scarring.

Immunologic

Quantitate serum immunoglobulins to assess for immunoglobulin deficiency

If affected person has excessive infections
If abnormal, consider referral to immunologist.

Endocrinologic

Evaluate for pubertal status in children & adolescents, & for signs/symptoms of menstrual irregularities in females.

To assess for premature puberty (in both sexes), premature ovarian failure, & secondary amenorrhea

Assess for signs & symptoms of insulin-dependent diabetes.

This finding is more common in older adults.

Neoplasia

Currently there are no tumor surveillance guidelines for Myhre syndrome.

It remains unclear whether persons w/Myhre syndrome are at ↑ risk of malignancy over general population risk.

Genetic
counseling

By genetics professionals ¹

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

Family support
& resources

Myhre Syndrome Foundation (MSF)

Assess need for social work involvement for parental support.
Consider palliative care counseling to support family & affected person when there are serious complications (e.g., cardiopulmonary, airway, or neoplastic involvement).

From: Myhre Syndrome

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

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