Table 6. [Treatment of Manifestations in Individuals with Fanconi Anemia]. - GeneReviews®

Manifestation/Concern	Treatment	Considerations/Other
Growth deficiency	Treatment per endocrinologist
Limb anomalies & other orthopedic manifestations	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
Nutrition	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
Dermatologic manifestations	Liberal use of sunscreen & rash guards Treatment per dermatologist
Family/Community	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.

Manifestation/Concern

Treatment

Considerations/Other

Growth deficiency

Treatment per endocrinologist

Limb anomalies &
other orthopedic
manifestations

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

Nutrition

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

Dermatologic
manifestations

Liberal use of sunscreen & rash guards
Treatment per dermatologist

Family/Community

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.

From: Fanconi Anemia

GeneReviews^® [Internet].

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

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