Woods Black Norbury syndrome

Other Names: Neonatal death immune deficiency; X-linked immunoneurological disorder

X-linked immunoneurologic disorder is characterized by immune deficiency and neurological disorders in females, and by neonatal death in males.

Epidemiology

The syndrome has been described in only one family with nine affected individuals (five males and four females) spanning two generations.

Cause

The gene locus has been mapped to Xq26-qter.

Inheritance

X-linked dominant inheritance

The condition is thought to be transmitted in an X-linked dominant manner.

Signs and symptoms

Symptomatic females present slowly progressive proximal muscle weakness, leg hyperreflexia, pes cavus, increased muscle tone in the legs, poor bladder function, static reduced night vision, and frequent sinopulmonary infections associated with IgG2 deficiency. Males present with low birth weight and severe hypotonia that leads to death in the neonatal period.

For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. 30%-79% of people have these symptoms

• Decreased circulating IgG2 level
• Functional abnormality of the bladder
• Hemiplegia/hemiparesis(Paralysis or weakness of one side of body)
• Hyperreflexia(Increased reflexes)
• Hypertonia
• Nyctalopia(Night blindness)
• Nystagmus(Involuntary, rapid, rhythmic eye movements)
• Recurrent respiratory infections(Frequent respiratory infections)

5%-29% of people have these symptoms

• Abnormal pleura morphology
• Cataract(Clouding of the lens of the eye)
• Myopathy(Muscle tissue disease)

Diagnosis

The syndrome should be considered in the differential diagnosis of hereditary spastic paraplegia in females and of other causes of severe neonatal hypotonia in males.

NIH genetic and rare disease info

• NIH info on Woods Black Norbury syndrome

Woods Black Norbury syndrome is a rare disease.