Table 4.

MID1-Related Opitz G/BBB Syndrome: Recommended Evaluations Following Initial Diagnosis

System/ConcernEvaluationComment
General Past medical history & physical exam w/attention to palate, heart, genitourinary system, & lower respiratory system
Cleft lip &/or palate
  • Referral of persons w/cleft lip/palate to craniofacial surgeon
  • Assessment of feeding & speech
  • Dental assessment
Audiology eval in those at risk for hearing loss due to cleft lip/palate
Urogenital abnormalities Assessment of hypospadias by urologist, incl ultrasound exam to evaluate for urinary tract dysfunction in males w/severe hypospadias
LTE defects Laryngoscopy & chest x-ray in persons who have choking w/feeding, recurrent pneumonia, &/or aspiration
Developmental delay Developmental eval
Congenital heart disease Echocardiogram
Anal abnormalities Assessment of anal position & patency
Ophthalmologic manifestations Complete ophthalmology eval incl assessment of visual acuity, refractive error, & ocular alignment for possible strabismus
Genetic counseling By genetics professionals 1To inform affected persons & their families re nature, MOI, & implications of MID1-OS to facilitate medical & personal decision making
Family support
& resources 		By clinicians, wider care team, & family support organizationsAssessment of family & social structure to determine need for:

LTE = laryngotracheoesophageal; MID1-OS = MID1-related Opitz G/BBB syndrome; MOI = mode of inheritance

1.

Medical geneticist, certified genetic counselor, certified advanced genetic nurse

From: MID1-Related Opitz G/BBB Syndrome

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