Table 5.

Oral-Facial-Digital Syndrome Type I: Recommended Evaluations

System/ConcernEvaluationComment
ENT Exam for oral manifestations that may affect feeding & speech
Dental Dental eval
Digit anomalies Assess for digit anomalies.
Neurologic
  • Eval of CNS involvement incl brain MRI
  • Neurologic eval w/movement disorder specialist for ataxia
  • EEG in those w/suspected seizures
Renal
  • Blood pressure
  • Serum creatinine concentration
  • Serum chemistries
  • Urinalysis
Ultrasound exam of kidneys for cystsIncl ultrasound of liver, ovary, & pancreas in those age ≥10 yrs
Development/
Behavior 		Formal, age-appropriate assessment of development & behavior
Hearing Audiology eval if cleft palate is present
Genetic counseling By genetics professionals 1To inform affected persons & their families re nature, MOI, & implications of OFD1 to facilitate medical & personal decision making
Family support
& resources 		Assess need for:

CNS = central nervous system; MOI = mode of inheritance; OFD1 = oral-facial-digital syndrome type I

1.

Medical geneticist, certified genetic counselor, certified advanced genetic nurse

From: Oral-Facial-Digital Syndrome Type I

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