Table 5. [Treatment of Manifestations in Individuals...]. - GeneReviews®

Manifestation/Concern	Treatment	Considerations/Other
Growth	Expect ~2 g/day weight gain throughout infancy & childhood. Avoid gastrostomy tube placement unless less-than-expected gain apparent for this disorder, after typical feeding regimens employed.	Use MOPDII-specific growth curves ¹ for appropriate mgmt & expectations. G-tube overfeeding can result in iatrogenic oral aversion.
Skeletal dysplasia	Hip pathology has been treated with in situ pinning or osteotomy. ² Scoliosis has been treated by spinal fusion.
Dental abnormalities	Ultimately treated w/dentures or implants	Typically in late teens or early adulthood
Hematologic abnormalities	Anemia & thrombocytosis are common but have generally not required treatment.
Cerebrovascular disease	Moyamoya vasculopathy in MOPDII has been treated w/encephaloduroarteriosynangiosis or pial synangiosis.	Moyamoya vasculopathy treatment predominately required in childhood
Aneurysm treatment has been by clipping, coiling, or stenting. ³	Aneurysm treatment can be needed in childhood as well as throughout adulthood. Aneurysm development is likely exacerbated by hypertension.
Coronary artery disease	Cardiovascular disease has been treated w/stents & bypass. Hypercholesterolemia & hypertension have been treated w/medication. ⁴	The definition of hypertension is not well understood; standard adult ranges are likely too high for adults w/MOPDII. Consider 110/70 as cutoff for hypertension in adulthood. ⁴
Renal disease	Chronic kidney disease has been treated w/medication, dialysis, &/or kidney transplant. ⁴
Insulin resistance / Diabetes mellitus	Diabetes has been treated w/medication. ⁴	Majority treated w/metformin &/or insulin
Cognitive ability	See Developmental Delay / Intellectual Disability Management Issues.	Unless there have been complications from neurovascular disease, intellectual development is generally in typical-to-borderline range, & social skills are excellent.

Manifestation/Concern

Treatment

Considerations/Other

Growth

Expect ~2 g/day weight gain throughout infancy & childhood. Avoid gastrostomy tube placement unless less-than-expected gain apparent for this disorder, after typical feeding regimens employed.

Use MOPDII-specific growth curves ¹ for appropriate mgmt & expectations.
G-tube overfeeding can result in iatrogenic oral aversion.

Skeletal dysplasia

Hip pathology has been treated with in situ pinning or osteotomy. ²
Scoliosis has been treated by spinal fusion.

Dental abnormalities

Ultimately treated w/dentures or implants

Typically in late teens or early adulthood

Hematologic abnormalities

Anemia & thrombocytosis are common but have generally not required treatment.

Cerebrovascular disease

Moyamoya vasculopathy in MOPDII has been treated w/encephaloduroarteriosynangiosis or pial synangiosis.

Moyamoya vasculopathy treatment predominately required in childhood

Aneurysm treatment has been by clipping, coiling, or stenting. ³

Aneurysm treatment can be needed in childhood as well as throughout adulthood.
Aneurysm development is likely exacerbated by hypertension.

Coronary artery disease

Cardiovascular disease has been treated w/stents & bypass.
Hypercholesterolemia & hypertension have been treated w/medication. ⁴

The definition of hypertension is not well understood; standard adult ranges are likely too high for adults w/MOPDII.
Consider 110/70 as cutoff for hypertension in adulthood. ⁴

Renal disease

Chronic kidney disease has been treated w/medication, dialysis, &/or kidney transplant. ⁴

Insulin resistance /
Diabetes mellitus

Diabetes has been treated w/medication. ⁴

Majority treated w/metformin &/or insulin

Cognitive ability

See Developmental Delay / Intellectual Disability Management Issues.

Unless there have been complications from neurovascular disease, intellectual development is generally in typical-to-borderline range, & social skills are excellent.

From: Microcephalic Osteodysplastic Primordial Dwarfism Type II

GeneReviews^® [Internet].

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

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