Table 4. [Recommended Evaluations Following Initial Diagnosis...]. - GeneReviews®

System/Concern	Evaluation	Comment
MFD	Airway assessment for evidence of upper-airway obstruction w/or w/o choanal atresia Exam for midline cleft palate & referral to multidisciplinary cleft palate team as required	Important in newborns w/disorder
DD/ID	Developmental assessment	Incl adaptive, cognitive, & speech-language evals
Hearing loss	Audiologic eval	Assess for hearing loss.
EA/TEF	Urgent eval in newborns, esp in those w/history of polyhydramnios, unexplained respiratory distress, &/or failed nasogastric tube placement
Cardiac anomaly	Echocardiogram & cardiologist eval
Renal anomaly	Renal ultrasound
Skeletal anomaly	Radiograph to assess for scoliosis, rib or thumb malformation as clinically indicated
Short stature	Assess w/growth charts.	Height growth curves for MFDM are published. ¹
Genetic counseling	By genetics professionals ²	To inform affected persons & families re nature, MOI, & implications of MFDM to facilitate medical & personal decision making
Family support & resources	Assess need for: Community or online resources such as Parent to Parent; Social work involvement for parental support; Home nursing referral.

System/Concern

Evaluation

Comment

MFD

Airway assessment for evidence of upper-airway obstruction w/or w/o choanal atresia
Exam for midline cleft palate & referral to multidisciplinary cleft palate team as required

Important in newborns w/disorder

DD/ID

Developmental assessment

Incl adaptive, cognitive, & speech-language evals

Hearing loss

Audiologic eval

Assess for hearing loss.

EA/TEF

Urgent eval in newborns, esp in those w/history of polyhydramnios, unexplained respiratory distress, &/or failed nasogastric tube placement

Cardiac anomaly

Echocardiogram & cardiologist eval

Renal anomaly

Renal ultrasound

Skeletal
anomaly

Radiograph to assess for scoliosis, rib or thumb malformation as clinically indicated

Short stature

Assess w/growth charts.

Height growth curves for MFDM are published. ¹

Genetic
counseling

By genetics professionals ²

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

Family support
& resources

Assess need for:

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

From: Mandibulofacial Dysostosis with Microcephaly

GeneReviews^® [Internet].

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

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