Management

Treatment of manifestations:management involves a multidisciplinary team of specialist in medical genetics, endocrinology, neurology, oral and maxillofacial surgery, orthopedics and hand surgery:
•    Surgery for cleft lip/palate, tongue nodules and accessory frenulae.
•    Surgery for postaxial polydactyly and hallux duplication.
•    Routine treatment for seizures.
•    Select the most suitable hormone replacement therapies, dosages, and administration methods based on individual needs and response to treatment.
•    Orchidopexy for cryptorchidism.
•    Early intervention and individualized education plan as needed. Speech therapy as needed. Standard treatments for attention deficit/hyperactivity disorder.
•    Social and psychological support for affected individuals and families.

Surveillance:
•    Screen for neonatal hypoglycemia.
•    Assess limb function.
•    Growth assessment and evaluation for signs or symptoms of pituitary insufficiency.
•    MRI (magnetic resonance imaging) of brain and pituitary gland to detect structural pituitary anomalies or cortical gyration anomalies.
•    Assess developmental progress and educational needs at each visit.

Evaluation of relatives:
•    It is appropriate to evaluate the genetic status of female relatives to determine if their sons are at risk for OFD type 21.
•    Refer heterozygous females, who desire to have children, for preconceptional counselling with discussion of the availability of prenatal/preimplantation genetic testing.