What are the other Names for this Condition? (Also known as/Synonyms)

• Familial Benign Hypocupremia

What is Familial Benign Copper Deficiency Disorder? (Definition/Background Information)

• Familial Benign Copper Deficiency Disorder is a rare disorder of mineral absorption and transport, characterized by hypocupremia that manifests as failure to thrive, mild anemia, repeated seizures, hypotonia, and seborrheic skin
• Spurring of the femur and tibia are also noted on radiographic imaging. Symptoms are reversible or improve with supplements of oral copper
• There have been no further descriptions in the literature since 1982

(Source: Familial Benign Copper Deficiency Disorder; Orphanet, National Institute of Health and Medical Research (INSERM), Paris.)

Who gets Familial Benign Copper Deficiency Disorder? (Age and Sex Distribution)

• Familial Benign Copper Deficiency Disorder is a very rare congenital disorder. The presentation of symptoms may occur at birth
• Both males and females may be affected
• Worldwide, individuals of all racial and ethnic groups may be affected

What are the Risk Factors for Familial Benign Copper Deficiency Disorder? (Predisposing Factors)

• A positive family history may be an important risk factor, since Familial Benign Copper Deficiency Disorder can be inherited
• Currently, no risk factors have been clearly identified for this deficiency disorder

It is important to note that having a risk factor does not mean that one will get the condition. A risk factor increases one’s chances of getting a condition compared to an individual without the risk factors. Some risk factors are more important than others.

Also, not having a risk factor does not mean that an individual will not get the condition. It is always important to discuss the effect of risk factors with your healthcare provider.

What are the Causes of Familial Benign Copper Deficiency Disorder? (Etiology)

The exact cause of Familial Benign Copper Deficiency Disorder is presently unknown. It is a genetic disorder that passed down families.

What are the Signs and Symptoms of Familial Benign Copper Deficiency Disorder?

The signs and symptoms of Familial Benign Copper Deficiency Disorder may include:

• Abnormality of the skeletal system
• Curly hair
• Failure to thrive
• Seborrheic dermatitis

Very frequently present symptoms in 80-99% of the cases: Hypocupremia

Frequently present symptoms in 30-79% of the cases:

Occasionally present symptoms in 5-29% of the cases:

• Anemia
• Aplasia/hypoplasia of the fovea
• Diaphyseal thickening
• Early balding

(Source: Familial Benign Copper Deficiency Disorder; Genetic and Rare Diseases Information Center (GARD) of National Center for Advancing Translational Sciences (NCATS), USA.)

How is Familial Benign Copper Deficiency Disorder Diagnosed?

Familial Benign Copper Deficiency Disorder is diagnosed on the basis of the following information:

• Complete physical examination
• Thorough medical history evaluation
• Assessment of signs and symptoms
• Laboratory tests
• Imaging studies
• Biopsy studies, if necessary

Many clinical conditions may have similar signs and symptoms. Your healthcare provider may perform additional tests to rule out other clinical conditions to arrive at a definitive diagnosis.

What are the possible Complications of Familial Benign Copper Deficiency Disorder?

The complications of Familial Benign Copper Deficiency Disorder may include:

• Skeletal abnormalities
• Emotional stress due to premature baldness

Complications may occur with or without treatment, and in some cases, due to treatment also.

How is Familial Benign Copper Deficiency Disorder Treated?

There is no cure for Familial Benign Copper Deficiency Disorder, since it is a genetic condition. The treatment is usually given to manage the signs and symptoms and any complications that develops.

How can Familial Benign Copper Deficiency Disorder be Prevented?

Currently, Familial Benign Copper Deficiency Disorder may not be preventable, since it is a genetic disorder.

• Genetic testing of the expecting parents (and related family members) and prenatal diagnosis (molecular testing of the fetus during pregnancy) may help in understanding the risks better during pregnancy
• If there is a family history of the condition, then genetic counseling will help assess risks, before planning for a child
• Active research is currently being performed to explore the possibilities for treatment and prevention of inherited and acquired genetic disorders

Regular medical screening at periodic intervals with tests and physical examinations are recommended.

What is the Prognosis of Familial Benign Copper Deficiency Disorder? (Outcomes/Resolutions)

• The prognosis of Familial Benign Copper Deficiency Disorder is dependent upon the severity of the signs and symptoms and associated complications, if any
• Individuals with mild conditions have better prognosis than those with severe symptoms and complications
• Typically, the prognosis may be assessed on a case-by-case basis

Additional and Relevant Useful Information for Familial Benign Copper Deficiency Disorder:

The following DoveMed website link is a useful resource for additional information:

http://www.dovemed.com/diseases-conditions/rare-disorders/