Femur bifid with monodactylous ectrodactyly
Alternate names[edit | edit source]
GWC; Gollop-Wolfgang complex
Definition[edit | edit source]
A rare congenital limb malformation characterized by bifid femur, absent or hypoplastic tibia and ulna with limb shortening, oligodactyly, and ectrodactyly.
Epidemiology[edit | edit source]
Approximately 200 cases have been reported worldwide.
Cause[edit | edit source]
The etiology remains unknown. In two Japanese patients, a duplication and a triplication of a 210 Kb chromosomal segment in 17p13.3, including BHLHA9, has been detected, and considered a susceptibility factor for the limb malformation.
Inheritance[edit | edit source]
The inheritance pattern is currently unknown, autosomal dominant and autosomal recessive inheritance models have been suggested.
Signs and symptoms[edit | edit source]
- The malformation presents with congenital aplasia/hypoplasia of the tibia, bifurcation of the distal femur, more commonly unilateral, accompanied by pre-axial oligodactyly or monodactyly of the feet.
- There is oligodactyly and ectrodactyly, often associated with an abnormality of the ulna.
- The pattern is frequently asymmetric.
- Occasionally other abnormalities can be present, namely congenital heart defects, cleft lip and palate and tracheo-oesophageal fistula.
For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. 80%-99% of people have these symptoms
- Aplasia/Hypoplasia of the tibia(Absent/small shankbone)
- Bifid femur(Notched thighbone)
- Ectrodactyly(Cleft hand)
- Hand monodactyly
30%-79% of people have these symptoms
- Aplasia/Hypoplasia of the ulna(Absence/underdevelopment of inner forearm bone)
Diagnosis[edit | edit source]
Diagnosis is based on clinical and radiological findings.
Differential diagnosis Differential diagnoses includes hypoplastic tibiae-postaxial-polydactyly syndrome and split hand foot malformation syndromes.
Treatment[edit | edit source]
Patients should be offered orthopedic and reconstructive surgery (involving prosthetics) and regular monitoring.
Prognosis[edit | edit source]
Life expectancy is not reduced but, in the absence of treatment, the functional prognosis is poor.
NIH genetic and rare disease info[edit source]
Femur bifid with monodactylous ectrodactyly is a rare disease.
- Need help finding a doctor or specialist anywhere in the world? WikiMD's DocFinder can help with millions of doctors!
This article is a stub. Help WikiMD grow by registering to expand it. |
Navigation: Wellness - Encyclopedia - Health topics - Disease Index - Drugs - World Directory - Gray's Anatomy - Keto diet - Recipes
Search WikiMD
Ad.Tired of being Overweight? Try W8MD's physician weight loss program.
Semaglutide (Ozempic / Wegovy and Tirzepatide (Mounjaro) available.
Advertise on WikiMD
WikiMD is not a substitute for professional medical advice. See full disclaimer.
Credits:Most images are courtesy of Wikimedia commons, and templates Wikipedia, licensed under CC BY SA or similar.Contributors: Deepika vegiraju