Femur bifid with monodactylous ectrodactyly

Alternate names

GWC; Gollop-Wolfgang complex

Definition

A rare congenital limb malformation characterized by bifid femur, absent or hypoplastic tibia and ulna with limb shortening, oligodactyly, and ectrodactyly.

Epidemiology

Approximately 200 cases have been reported worldwide.

Cause

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

The inheritance pattern is currently unknown, autosomal dominant and autosomal recessive inheritance models have been suggested.

Signs and symptoms

• 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

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

Patients should be offered orthopedic and reconstructive surgery (involving prosthetics) and regular monitoring.

Prognosis

Life expectancy is not reduced but, in the absence of treatment, the functional prognosis is poor.

NIH genetic and rare disease info

• NIH info on Femur bifid with monodactylous ectrodactyly

Femur bifid with monodactylous ectrodactyly is a rare disease.

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