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

• Beukes Familial Hip Dysplasia (BFHD)
• Cilliers-Beighton Syndrome
• Premature Degenerative Osteoarthropathy of Hip

What is Beukes Hip Dysplasia? (Definition/Background Information)

• Beukes Hip Dysplasia (BHD) or Beukes Familial Hip Dysplasia (BFHD) is a rare inherited skeletal dysplasia affecting the hip joint
• In general, skeletal dysplasias are a group of disorders which affect the bone and cartilage. Skeletal dysplasias are more commonly known as types of dwarfism, but not all skeletal dysplasias cause a person to be short in height
• In fact, Beukes Hip Dysplasia only affects the hip joint. A person with BHD is similar in height to other family members. There are no other health problems associated with BHD
• Beukes Hip Dysplasia is caused by a change or mutation in one copy of the UFSP2 gene, and inherited in an autosomal dominant manner with incomplete penetrance
• BHD causes severe progressive degenerative osteoarthritis of the hip joint in early adulthood. Symptoms of hip joint pain and discomfort usually begin in infancy or later childhood, but may also begin as late as the mid-30s. Severity of the condition varies even among family members
• After symptoms begin, the characteristic signs of secondary osteoarthritis (including bone sclerosis, cyst formation and narrowing of the joint space) develop and the joint deteriorates rapidly
• Treatment depends on the severity of symptoms, but may include walking aids (such as a cane or walker), medication for pain or to reduce inflammation, and/or hip joint replacement surgery

(Source: Beukes Familial Hip Dysplasia; Genetic and Rare Diseases Information Center (GARD) of National Center for Advancing Translational Sciences (NCATS), USA.)

Who gets Beukes Hip Dysplasia? (Age and Sex Distribution)

• Beukes Hip Dysplasia is a rare congenital disorder. Most of the reported cases are from a single family (of European descent) in South Africa
• The presentation of symptoms may begin in infancy or late childhood. In some cases, symptom manifestation may occur in an individuals 30s
• Both males and females may be affected
• Worldwide, individuals of all racial and ethnic groups may be affected

What are the Risk Factors for Beukes Hip Dysplasia? (Predisposing Factors)

• A positive family history may be an important risk factor, since Beukes Hip Dysplasia can be inherited
• Currently, no other risk factors have been clearly identified for the 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 Beukes Hip Dysplasia? (Etiology)

• Beukes Hip Dysplasia is caused by a change or mutation in one copy of the UFSP2 gene
• It is inherited in an autosomal dominant manner with incomplete penetrance

(Source: Beukes Familial Hip Dysplasia; Genetic and Rare Diseases Information Center (GARD) of National Center for Advancing Translational Sciences (NCATS), USA.)

Autosomal dominant mode of inheritance: Autosomal dominant conditions are traits or disorders that are present when only one copy of the mutation is inherited on a non-sex chromosome. In these types of conditions, the individual has one normal copy and one mutant copy of the gene. The abnormal gene dominates, masking the effects of the correctly function gene. If an individual has an autosomal dominant condition, the chance of passing the abnormal gene on to their offspring is 50%. Children, who do not inherit the abnormal gene, will not develop the condition or pass it on to their offspring.

In autosomal dominant inheritance with reduced or incomplete penetrance, an individual may not develop symptoms even when he/she is carrying a gene mutation or deletion in each cell of his/her body.

What are the Signs and Symptoms of Beukes Hip Dysplasia?

The signs and symptoms of Beukes Hip Dysplasia may vary in severity among affected individuals, and include:

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

• Abnormal ossification involving the femoral head and neck
• Abnormality of bone mineral density
• Abnormality of the epiphysis of the femoral head
• Broad femoral neck
• Hip dysplasia
• Osteoarthritis

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

• Coxa vara
• Kyphosis
• Scoliosis

Some additional signs and symptoms occur in some affected individuals, and may include:

• Avascular necrosis of the capital femoral epiphysis
• Flat capital femoral epiphysis
• Irregular capital femoral epiphysis
• Shallow acetabular fossae
• Wide proximal femoral metaphysis

(Source: Beukes Familial Hip Dysplasia; Genetic and Rare Diseases Information Center (GARD) of National Center for Advancing Translational Sciences (NCATS), USA.)

How is Beukes Hip Dysplasia Diagnosed?

Beukes Familial Hip Dysplasia 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 Beukes Hip Dysplasia?

The complications of Beukes Familial Hip Dysplasia may include:

• Severe pain due to osteoarthritis and degeneration of hip bone
• Restricted movements
• Immobility

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

How is Beukes Hip Dysplasia Treated?

• There is no cure for Beukes Hip Dysplasia, since it is a genetic condition. The treatment is usually given to manage the signs and symptoms and any complication that develops
• Treatment depends on the severity of symptoms, but may include walking aids (such as a cane or walker), medication for pain or to reduce inflammation, and/or hip joint replacement surgery

(Source: Beukes Familial Hip Dysplasia; Genetic and Rare Diseases Information Center (GARD) of National Center for Advancing Translational Sciences (NCATS), USA.)

How can Beukes Hip Dysplasia be Prevented?

Beukes Familial Hip Dysplasia 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, if available), 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 Beukes Hip Dysplasia? (Outcomes/Resolutions)

• The prognosis of Beukes Hip Dysplasia is dependent upon the severity of the signs and symptoms and associated complications, if any
• Individuals with severe signs and symptoms may experience movement difficulties due to degeneration of hipbone, and walking aids may become necessary 
• Typically, the prognosis may be assessed on a case-by-case basis

Additional and Relevant Useful Information for Beukes Hip Dysplasia:

• As of 2015, Beukes Familial Hip Dysplasia has only been found in relatives of a single family in South Africa who were of European descent. BHD has affected many generations and members of this family. Family members with BHD now live in other parts of the world as well
• It is reported that about 80% of the people who inherit the mutation in the UFSP2 gene will develop symptoms of BHD
• Beukes Familial Hip Dysplasia is also known as Hip Dysplasia, Beukes type

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

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