Van De Berghe Dequeker Syndrome - Causes, Symptoms, and Diagnosis

Introduction:

Individuals affected by a rare condition may face many difficulties and challenges in their life, especially when there is limited information about the condition and its treatment. It can be stressful for the affected individual, parents, and their caregivers. Often various specialists are required in the management of a rare condition. Therefore, proper coordination between the affected family and the medical care team is essential. Van De Berghe Dequeker syndrome is one such extremely rare genetic condition. This article will discuss Van De Berghe Dequeker syndrome and its clinical features in detail.

What Is Van De Berghe Dequeker Syndrome?

This condition was first discovered by H. Van De Berghe et al, in the year of 1978 where he described lobster claw feet and a severe ulnar defect noticed in four males of a two-generation family and he also noticed only minor defects of the foot and minor ulnar dysplasia in the female members of the family. Van De Berghe Dequeker syndrome is also known as ulnar hypoplasia-split foot syndrome.

• This syndrome is characterized by multiple clinical manifestations, such as the presence of severe ulnar hypoplasia(one of the two long bones in the forearm), the absence of multiple fingers, and split-foot malformation.

• It is a genetic condition with an X-linked inheritance pattern as the literature describes that the condition was present in four male members who belonged to two generations of the same family.

There are various other names for this syndrome, such as:

• Ulnar hypoplasia lobster claw deformity of feet.

• Complete absence of the ulna and of fingers two to five with lobster claw deformity of feet.

• Severe ulnar aplasia and lobster claw syndrome.

• Familial ulnar aplasia and lobster claw syndrome.

Who Gets Van De Berghe Dequeker Syndrome?

The range of people who might have had this condition is estimated to be fewer than 1000 cases in the United States. And the occurrence of this condition is less than 1 person in one lakh people. Since the evident cases were reported to be present in four male persons in two generations of a single family, the conditions are highly likely to occur more in males than females.

What Are the Risk Factors and Causes of Van De Berghe Dequeker Syndrome?

Not every individual with predisposing factors is affected by this syndrome. The presence of predisposing factors increases the chances of getting the condition.

• Van De Berghe Dequeker syndrome is a genetic condition hence the predisposing risk factor is the presence of a familial history of this condition.

• The presence of an altered gene with this particular condition’s pathologic variant in the parents increases the chance of inheriting the syndrome.

The exact cause of this genetic condition is still unknown. However, with evidence from reported cases, it is believed to be of an X-linked inheritance pattern.

• Genes which are the basic genetic material present in each of the body’s cells contain 23 pairs of chromosomes, with the last two chromosomes being the sex chromosomes (X and Y chromosome)—XY chromosome in males and XX in females.

• This condition has an X-linked inheritance, i.e., the altered or mutated gene is present in the X chromosome. A single mutated copy of the gene in a cell is enough to cause the disease in males however, in females, it requires both copies of the altered gene to cause the disease. Hence males are more affected by the X-linked inheritance pattern.

What Are the Symptoms of the Van De Berghe Dequeker Syndrome?

The signs and symptoms of Van De Berghe Dequekar syndrome start to occur in newborns at the age of four weeks. The extent and severity of the symptoms differ from person to person. The symptoms of this condition include the following.

• Aplasia or Hypoplasia of the Radius: This condition affects one of the two long bones of the forearm. It results in either absence of the radial bone or remains below the normal size or in an immature form.

• Hypoplasia of the Ulna: In this condition, there is an excessive degree of deficiency associated with the ulna bone (forearm bone) or an underdeveloped ulna bone.

• Split Hand: In this condition, there is an absence of the middle portion of the hands, such as the second to fifth fingers and part of the metacarpal bones giving a cleft appearance. The condition ranges from a slightly deformed middle finger to a complete absence of middle fingers to monodactyl.

• Split Foot: Patients with this condition have an absence of the middle portion of the foot, such as the absence of the middle toes and parts of the metatarsal bones. The severity of the condition ranges from mild deformity of the toes to complete absence of the second and third toes to monodactyl feet.

How Is Van De Berghe Dequeker Syndrome Diagnosed?

The doctor performs a detailed history taking, and the familial history of the patient is assessed. A complete and thorough physical examination of the patient is performed to assess the signs and symptoms of the patient. The clinician may perform various laboratory studies and biopsy studies if necessary. The most effective way to diagnose this condition and rule out other similar conditions is by performing a radiographic investigation.

Imaging studies may reveal findings such as:

• Absence of the ulna bone.

• Curved and broader radial bone.

• Split-foot appearance.

• Club-like deformity of the humerus bone.

How Is It Treated?

Since it is a genetically inherited condition, currently, there is no treatment for the condition. Management of this syndrome is based on the symptoms of the patient. The clinician may refer the affected child to an orthopedic surgeon for the surgical management of the deformities. Reconstructive surgeries, prosthetics, and other supportive measures may be advised for the affected child to improve the appearance and functional abilities of the affected child with deformed limbs.

What Are the Possible Complications?

• Loss of balance while walking.

• Lower self-esteem.

• Inability to perform daily activities such as holding things and performing personal hygiene measures.

• Difficulties with typing and writing.

Conclusion:

Van De Berghe Dequeker syndrome is an extremely rare genetic condition characterized by ulnar hypoplasia, split foot, and absence of multiple fingers. It is a genetic condition that is inherited by an X-linked recessive pattern. Parents with a familial history of this condition should undergo genetic counseling before planning for a child. At present, there is no cure for this condition. However, various research and studies have been performed to explore the treatment options and preventive measures for this condition.