Gollop-Wolfgang Complex - Signs and Symptoms

Introduction

Gollop-Wolfgang complex is a musculoskeletal disorder affecting the limbs. It is a sporadic disease with unknown causes. Gollop-Wolfgang complex is estimated to have an incidence of approximately one in one million live births. About 200 cases have been reported worldwide until now.

What Is the Gollop-Wolfgang Complex?

Gollop-Wolfgang complex is a rare congenital limb malformation disorder that is characterized by:

• A bifid femur.

• Shortened limbs due to absent or hypoplastic tibia and ulna, oligodactyly.

• Ectrodactyly.

Gollop-Wolfgang complex is also associated with other congenital defects like anomalies of the heart, genitourinary, and gastrointestinal systems.

What Is the Etiology of the Gollop-Wolfgang Complex?

Gollop-Wolfgang complex is a genetic disorder. The exact cause of the Gollop-Wolfgang complex is unknown. The cause is thought to be associated with genetic error associated with limb development. The mode of inheritance of the complex is found to be autosomal dominant inheritance. Numerous associations between the Gollop-Wolfgang syndrome and the use of antiepileptic drugs like Sodium valproate and Carbamazepine by the mother have also been found.

What Are the Signs and Symptoms of the Gollop-Wolfgang Complex?

The signs and symptoms of the Gollop-Wolfgang complex start appearing during pregnancy and in the neonatal period. The symptoms of the complex include the following.

• Aplasia or Hypoplasia of the Tibia - Tibia (shin bone) is the bone in the legs between the knee and the ankle. It is a prominent weight-bearing bone. Aplasia of the tibia refers to the complete absence of the bone. Hypoplasia refers to the partial underdevelopment of the tibial bone. Aplasia or hypoplasia of the tibia may cause shortening of legs and foot and ankle problems.

• Bifid Femur - Femur is the long bone in the thigh. The bifid femur is a condition in which the long thigh bone is bifurcated or split into branches or forks at the lower end of the bone. During a clinical examination, the bifid femur may present as a bony prominence in the knee. It may cause problems with walking, hip instability, and limb discrepancy.

• Ectrodactyly - Ectrodactyly is also known as split hand/split foot malformation or lobster claw hand. Ectrodactyly is characterized by the absence or underdevelopment of one or more central digits(fingers or toes) of the hand or foot.

• Monodactylyor Oligodactyly - Monodactyly is characterized by only one digit(finger) in the hands or feet. Monodactyly of hand is seen in some cases of the Gollop-Wolfgang complex. Oligodactyly is a congenital condition in which one or more digits are missing or underdeveloped in the hands and feet.

• Aplasia or Hypoplasia of the Ulna - Ulna is one of the two long bones of the forearm. The absence or underdevelopment of the ulna is known as aplasia or hypoplasia of the ulna. This is due to the genetic factors that disrupt the ulna's development.

• Other Signs and Symptoms - Other congenital anomalies may also be present, along with limb defects. Some conditions associated with the Gollop-Wolfgang complex include

  • Congenital heart defects include atrial septal, ventricular septal, and patent ductus arteriosus.

  • Vertebral anomalies like hemivertebrae.

  • Esophageal atresia (congenital disability of the esophagus).

  • Anal atresia (defective or abnormal anorectal opening)

  • Renal anomalies.

  • Tracheoesophageal fistula (an abnormal connection between the esophagus and the trachea).

How Is the Gollop-Wolfgang Complex Diagnosed?

Prenatal Diagnosis:

Skeletal deformities are evident during the second trimester of pregnancy. A short femur is the first clue usually seen in the ultrasound. A prenatal diagnosis of the syndrome is technically feasible during the anomaly scan. But this is limited due to various factors like the position of the fetus, maternal obesity, or the presence of less amniotic fluid.

Diagnosis After Birth:

• Diagnosis of the Gollop-Wolfgang syndrome after the baby is born is usually made by clinical examination and radiological findings (X-rays).

• The doctor clinically examines the baby to check for clinical features like bony prominence at the knee, club foot, lobster claw hands, and other skeletal deformities.

• Radiographs are taken for better diagnosis. Some of the common radiographic findings of the Gollop-Wolfgang complex include the bifid distal femur, tibial hemimelia (short or absent tibia) of one or both legs, absence of patella and other deformities of the limbs.

How Is Gollop-Wolfgang Complex Treated?

• There is no complete cure for this syndrome. Treatment usually involves orthopedic and reconstructive surgeries to correct skeletal deformities.

• Surgical correction of the Gollop-Wolfgang complex is difficult since it has no predefined procedure or protocol.

• The best treatment procedure known to be done for the Gollop-Wolfgang complex involves the following:

  • Early knee disarticulation (muscle-balanced amputation in which the lower leg and foot are removed from the body)

  • Removal or resection of the protruding and bifurcated part of the bifid femur.

  • Fitting a modern prosthesis.

• Intensive post-operative rehabilitation is required in almost all cases.

• An alternative to amputation is limb salvage treatment, but the long-term outcomes are not satisfactory while using the limb salvage treatment.

• The problem with amputation and prostheses is that the parents are unwilling to consent to it despite it being the best treatment option.

What Are Some Other Syndromes Similar to the Gollop-Wolfgang Syndrome?

• Hypoplastic tibiae-postaxial polydactyly syndrome has a similar symptom of absent or hypoplastic tibia and other symptoms like polysyndactyly and triphalangeal thumbs.

• Split hand foot malformation syndrome in which ectrodactyly is the main characteristic feature.

What Are the Outcomes of the Gollop-Wolgang Complex?

The life expectancy of the individuals affected by this syndrome is not reduced even if they don't undergo surgical treatment. But the functional efficiency of the individual cannot be improved when the skeletal deformities are left untreated.

Conclusion

The Gollop-Wolfgang complex is a sporadic disease; only a few cases have been reported worldwide. Ultrasound in the second trimester can help with an early prenatal disease diagnosis. Early diagnosis can help counsel the parents about the different clinical scenarios that could happen at birth and about the various treatment options available. Different research is being undertaken to know about the genetic error that causes the disease. Further studies about different treatment options may improve the long-term prognosis of the patients.