Table 4. [Treatment of Manifestations in Individuals with KCNK9 Imprinting Syndrome]. - GeneReviews®

Manifestation/Concern	Treatment	Considerations/Other
Lacrimal duct obstruction	Tear duct massage; consider lacrimal duct stent placement.
Cleft palate, bifid uvula, or velopharyngeal insufficiency	Mgmt by cleft/craniofacial team; retrognathia & underdevelopment of mandible may require mandibular distraction osteogenesis.
Obstructive sleep apnea	CPAP or BiPAP; ENT eval for tonsillectomy/adenoidectomy	Pulmonary consultation; consider treatment w/mefanamic or flufenamic acid (See Therapies Under Investigation.)
Feeding difficulties or signs of aspiration	Use of a special nipple or bottle w/cleft palate; short-term nasogastric feeding tube; consideration of gastrostomy tube
Gastroesophageal reflux disease	Standard positioning & pharmacologic treatment
Musculoskeletal findings (i.e., contractures, scoliosis)	Ankle-foot orthoses or other assistive devices; standard treatment for scoliosis	PT &/or OT eval; consultation w/orthopedist
Seizure disorder	Eval of blood sugar & electrolytes; standard treatment for seizures	Consider EEG & referral to neurologist.
Unexplained hypoglycemia or suspected hyperinsulinism	Consideration of diazoxide therapy	Consider referral to an endocrinologist.
Developmental delay	Early referral for developmental support/special education, which may incl: PT, OT, speech therapy, &/or cognitive therapy	Consider referral to neurodevelopmental specialist &/or neuropsychiatric testing.

Manifestation/Concern

Treatment

Considerations/Other

Lacrimal duct obstruction

Tear duct massage; consider lacrimal duct stent placement.

Cleft palate, bifid uvula, or velopharyngeal insufficiency

Mgmt by cleft/craniofacial team; retrognathia & underdevelopment of mandible may require mandibular distraction osteogenesis.

Obstructive sleep apnea

CPAP or BiPAP; ENT eval for tonsillectomy/adenoidectomy

Pulmonary consultation; consider treatment w/mefanamic or flufenamic acid (See Therapies Under Investigation.)

Feeding difficulties or signs of aspiration

Use of a special nipple or bottle w/cleft palate; short-term nasogastric feeding tube; consideration of gastrostomy tube

Gastroesophageal reflux disease

Standard positioning & pharmacologic treatment

Musculoskeletal findings (i.e., contractures, scoliosis)

Ankle-foot orthoses or other assistive devices; standard treatment for scoliosis

PT &/or OT eval; consultation w/orthopedist

Seizure disorder

Eval of blood sugar & electrolytes; standard treatment for seizures

Consider EEG & referral to neurologist.

Unexplained hypoglycemia or suspected hyperinsulinism

Consideration of diazoxide therapy

Consider referral to an endocrinologist.

Developmental delay

Early referral for developmental support/special education, which may incl: PT, OT, speech therapy, &/or cognitive therapy

Consider referral to neurodevelopmental specialist &/or neuropsychiatric testing.

From: KCNK9 Imprinting Syndrome

GeneReviews^® [Internet].

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

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