Genetic Disorders with No OMIM Codexery

Fibular hemimelia

Congenital absence of the fibula, the most common long bone deficiency.

Fibular hemimelia

Fibular hemimelia, also known as longitudinal fibular deficiency, is a congenital condition characterized by the partial or complete absence of the fibula, making it the most common congenital absence of a long bone in the extremities. The disorder can be detected by ultrasound in utero and often leads to severe knee instability, malformed ankles, and foot deformities, with treatment options including amputation or complex bone-lengthening surgery.

Quick Facts

Field
Medical genetics, orthopedics

Facts from the source article.

Lore & Background

Fibular hemimelia presents at birth as a shortening or complete lack of the fibula, often accompanied by a fibrous band instead of the bone. The condition causes a short, deformed leg, absence of the lateral part of the ankle joint, and an unstable equinovalgus foot deformity. Partial or total absence of the fibula is among the most frequent limb anomalies and is the most common skeletal deformity in the leg. It may also involve absence or fusion of toes, and in severe forms, limited ankle motion and stability.

Reader's Guide

Fibular hemimelia is significant as the most common long bone deficiency and a leading cause of congenital leg deformity. The cause remains unclear, with possible factors including maternal viral infections, embryonic trauma, teratogenic exposures, or vascular dysgenesis between four and seven weeks gestation. Treatment decisions are often made prenatally via ultrasound, with options including amputation at around six months to prepare for prosthetic use, or repeated corrective osteotomies and leg-lengthening using the Ilizarov apparatus—though these are costly and associated with residual deformity. The condition has affected notable Paralympic athletes and public figures, highlighting its impact on mobility and adaptation.

Did You Know?

Frequently Asked Questions

Who is Fibular hemimelia?

Fibular hemimelia, sometimes called longitudinal fibular deficiency, is a congenital limb condition in which the fibula is partially or entirely missing from birth. It belongs to the broader category of congenital long-bone deficiencies affecting the extremities.

What are Fibular hemimelia's powers/role?

Its defining 'effect' is producing severe knee instability, malformed ankles, and foot deformities on the affected side. The presentation is typically unilateral, and males are roughly twice as likely to be affected as females.

Why is Fibular hemimelia important?

It is recognized as the most common congenital absence of any long bone in the extremities, giving it a central place in pediatric orthopedic literature. Its frequent prenatal detection via ultrasound also makes it a recurring topic in discussions about antenatal screening for limb anomalies.

What's Fibular hemimelia's backstory/origin?

The deficiency is already present during embryonic development and can often be identified on a routine second-trimester ultrasound. No single inherited gene has been consistently mapped to the condition, which is one reason it lacks a dedicated OMIM entry despite its recognized clinical distinctiveness.

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