DI 23022: Processing Quick Disability Determination (QDD) and Compassionate Allowances (CAL) in the Disability Determination Services (DDS)
TN 1 (10-08)
COMPASSIONATE ALLOWANCE INFORMATION | |
OSTEOGENESIS IMPERFECTA (OI) - Type II | |
DESCRIPTION |
Osteogenesis Imperfecta (OI) is a group of genetic disorders that mainly affect the bones. The term “osteogenesis imperfecta” means imperfect bone formation. People with this condition have bones that break easily, often from mild trauma or with no apparent cause. Multiple fractures are common, and in severe cases, can occur even before birth. Milder cases may involve only a few fractures over a person's lifetime. |
ALTERNATE NAMES |
Osteogenesis Imperfecta Congenita (OIC), Vrolik Disease (OI Type 2A) |
DIAGNOSTIC TESTING AND CODING |
Ultrasound can often detect severe cases of OI during pregnancy. The severe form of OI Type II can be seen on ultrasound when the fetus is as young as 16 weeks. Genetic testing may be able to identify the mutation. Most infants with more severe forms of osteogenesis imperfecta (such as type II) have no history of the condition in their family. In these infants, the condition is caused by new (sporadic) mutations in the COL1A1 or COL1A2 gene. |
TREATMENT |
There is no cure for this disease. However, specific therapies can reduce the pain and complications associated with OI. Bisphosphonates are drugs that have been used to treat osteoporosis. |
PROGRESSION |
OI Type II infants have life-threatening problems with breathing and often die shortly after birth. |
SUGGESTED PROGRAMMATIC ASSESSMENT* | ||
Suggested MER for Evaluation: Type I collagen defect confirmed by biochemical skin biopsy test or DNA-based gene test for COL1A1 and COL1A2. Physical and imaging findings consistent with Type II. | ||
Suggested Listings for Evaluation: | ||
DETERMINATION |
LISTING |
REMARKS |
Meets Listing |
110.08A |
Catastrophic congenital abnormality or disease. |
Medical Equals |
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* Adjudicators may, at their discretion, use the Medical Evidence of Record or Listings suggested to evaluate the claim. However, the decision to allow or deny the claim rests with the adjudicator. |
Last Updated: 9/10/08 |
Office of Disability Programs |