Gollop-Wolfgang complex
Gollop-Wolfgang complex | |
---|---|
Synonyms | |
Pronounce | N/A |
Specialty | N/A |
Symptoms | Limb malformations, split hand/foot malformation, tibial aplasia |
Complications | |
Onset | Congenital |
Duration | |
Types | |
Causes | Genetic mutation |
Risks | |
Diagnosis | Clinical diagnosis, genetic testing |
Differential diagnosis | Split hand/foot malformation, Tibial hemimelia |
Prevention | |
Treatment | Surgical intervention |
Medication | |
Prognosis | |
Frequency | Rare |
Deaths | N/A |
=Gollop-Wolfgang Complex =
Gollop-Wolfgang Complex is a rare congenital disorder characterized by limb malformations and other skeletal abnormalities. It is a type of limb reduction defect that primarily affects the lower extremities.
Clinical Features
The main clinical features of Gollop-Wolfgang Complex include:
- Bifurcation of the femur: This is a hallmark feature where the femur is split or bifurcated.
- Ectrodactyly: Also known as "split hand/foot malformation," this involves the absence of one or more central digits on the hands or feet.
- Tibial aplasia or hypoplasia: The tibia may be underdeveloped or absent.
Diagnosis
Diagnosis of Gollop-Wolfgang Complex is primarily based on clinical examination and imaging studies. Radiography is used to assess the extent of limb malformations. Genetic testing may be conducted to rule out other syndromes with overlapping features.
Etiology
The exact cause of Gollop-Wolfgang Complex is not well understood. It is believed to result from disruptions in limb development during embryogenesis. There is no known genetic mutation specifically associated with this condition, and most cases appear to occur sporadically.
Differential Diagnosis
Conditions that may be considered in the differential diagnosis include:
- Tibial hemimelia
- Ectrodactyly-ectodermal dysplasia-cleft syndrome (EEC syndrome)
- Split hand/foot malformation
Management
Management of Gollop-Wolfgang Complex is multidisciplinary and may involve:
- Orthopedic surgery: To correct limb deformities and improve function.
- Prosthetics: For cases with significant limb reduction.
- Physical therapy: To enhance mobility and strength.
Prognosis
The prognosis for individuals with Gollop-Wolfgang Complex varies depending on the severity of the limb malformations and the presence of any associated anomalies. With appropriate management, many individuals can achieve a good quality of life.
Research and Future Directions
Research into the genetic and developmental pathways involved in Gollop-Wolfgang Complex is ongoing. Understanding the molecular basis of this condition may lead to improved diagnostic and therapeutic strategies.
See Also
External Links
NIH genetic and rare disease info
Gollop-Wolfgang complex is a rare disease.
Rare and genetic diseases | ||||||
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Rare diseases - Gollop-Wolfgang complex
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