Boomerang Dysplasia

Definition

Definition of Boomerang Dysplasia
Boomerang dysplasia is a disorder that affects the development of bones throughout the body. Affected individuals are born with inward- and upward-turning feet (clubfeet) and dislocations of the hips, knees, and elbows. Bones in the spine, rib cage, pelvis, and limbs may be underdeveloped or in some cases absent. As a result of the limb bone abnormalities, individuals with this condition have very short arms and legs. Pronounced bowing of the upper leg bones (femurs) gives them a "boomerang" shape.

Some individuals with boomerang dysplasia have a sac-like protrusion of the brain (encephalocele). They may also have an opening in the wall of the abdomen (an omphalocele) that allows the abdominal organs to protrude through the navel. Affected individuals typically have a distinctive nose that is broad with very small nostrils and an underdeveloped partition between the nostrils (septum).

Individuals with boomerang dysplasia typically have an underdeveloped rib cage that affects the development and functioning of the lungs. As a result, affected individuals are usually stillborn or die shortly after birth from respiratory failure.

Symptoms

Symptoms of Boomerang Dysplasia
The list of signs and symptoms for Boomerang listed below:

1. Boomerang-Shaped Long Bones Of Leg
2. Dwarfism
3. Characteristic facial features
4. Absent radius
5. Absent tibia
6. Abnormal tibia
7. Absent fibula
8. Broad nasal root
9. Underdeveloped nostrils
10. Abnormal fibula
11. Narrow rib cage
12. Underdeveloped lungs
13. Toe abnormalities
14. Finger abnormalities
15. Missing humerus
16. Abnormal long bones
17. Missing femur

Causes

Causes of Boomerang Dysplasia
Mutations in the Filamin B (FLNB) gene cause boomerang dysplasia. FLNB is a cytoplasmic protein that regulates intracellular communication and signalling by cross-linking the protein actin to allow direct communication between the cell membrane and cytoskeletal network, to control and guide proper skeletal development. Disruptions in this pathway, caused by FLNB mutations, result in the bone and cartilage abnormalities associated with boomerang dysplasia.

Diagnosis

Diagnosis of Boomerang Dysplasia
Prenatal and neonatal diagnosis of boomerang dysplasia includes several prominent features found in other osteochondrodysplasias, though the "boomerang" malformation seen in the long bones is the delineating factor.

Treatment

Treatment of Boomerang Dysplasia
Consult with your doctor.

Prognosis

Prognosis of Boomerang Dysplasia
Consult with your doctor.

Prevention

Prevention of Boomerang Dysplasia
Consult with your doctor.