Table 6.

Treatment of Manifestations in Individuals with Fanconi Anemia

Growth deficiency Treatment per endocrinologist
Limb anomalies &
other orthopedic
  • Mgmt per orthopedic surgeon
  • PT, OT
Ocular anomalies Mgmt per ophthalmologist
Renal malformations Mgmt per nephrologist &/or urologist
Genital anomalies Mgmt per gynecologist or urologist
Hypothyroidism Treatment per endocrinologist
Hearing loss Hearing aids may be helpful; per otolaryngologist.Community hearing services through early intervention or school district
Cardiac anomalies Treatment per cardiologist & surgery
  • Supplemental feeding as needed by nasogastric tube or gastrostomy
  • Vitamin D supplementation
Low threshold for clinical feeding eval if clinical signs or symptoms of dysphagia
Development Early intervention for DDs; individualized education plan for school-age children; therapies (speech, OT, PT) as needed
  • Liberal use of sunscreen & rash guards
  • Treatment per dermatologist
  • Ensure appropriate social work involvement to connect families w/local resources, respite, & support.
  • Coordinate care to manage multiple subspecialty appointments, equipment, medications, & supplies.
  • Ongoing assessment of need for palliative care involvement &/or home nursing
  • Consider involvement in adaptive sports or Special Olympics.

DD = developmental delay; OT = occupational therapy; PT = physical therapy

From: Fanconi Anemia

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