Fuhrmann syndrome

Case contributed by Dr Marya Hameed

Presentation

The patient presented with multiple contractures.

Patient Data

Age: 2-year-old
Gender: Female
X-ray

There is a complete absence of unilateral left fibula with associated longitudinal deficiency of 2nd metatarsal, proximal phalanges of 2nd toe, and the complete absence of 3rd metatarsal and 3rd digit of the left foot. Soft tissue syndactyly of 1st and 2nd toes of the right foot and 1st 2nd and 3rd toes of the left foot is also noted.

Case Discussion

Fuhrmann syndrome is an autosomal recessive genetic limb-malformation disorder caused by a mutation in the WNT7A gene 1. The development of hands and feet is controlled by the WNT7A gene, which explains the skeletal abnormalities associated with partial loss of function of this gene 2


Fuhrmann syndrome is characterized by fibular aplasia/hypoplasia, hypoplasia of the pelvis, femoral bowing, syndactyly/polydactyly, fingernail deficiency, and tooth anomalies. 
The definitive diagnosis for this condition needs a complete genetic analysis. Still, a complete skeletal survey remains the hallmark for diagnosis due to a lack of resources and unavailability in low-income countries.

 
The outcome of these patients depends upon the extent of the presenting signs and symptoms; an early diagnosis and physical rehabilitation, and corrective surgery for few symptoms can result in a good quality of life. 

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