Rare Hematology News

Disease Profile

Woods Black Norbury syndrome

Prevalence
Prevalence estimates on Rare Medical Network websites are calculated based on data available from numerous sources, including US and European government statistics, the NIH, Orphanet, and published epidemiologic studies. Rare disease population data is recognized to be highly variable, and based on a wide variety of source data and methodologies, so the prevalence data on this site should be assumed to be estimated and cannot be considered to be absolutely correct.
<1 / 1 000 000

< 331

US Estimated

< 514

Europe Estimated

Age of onset

Infancy

ageofonset-infancy.svg

ICD-10

D82.8

Inheritance

Autosomal dominant A pathogenic variant in only one gene copy in each cell is sufficient to cause an autosomal dominant disease

no.svg

Autosomal recessive Pathogenic variants in both copies of each gene of the chromosome are needed to cause an autosomal recessive disease and observe the mutant phenotype

no.svg

X-linked
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.

rnn-xlinkeddominant.svg

X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder

no.svg

Mitochondrial or multigenic Mitochondrial genetic disorders can be caused by changes (mutations) in either the mitochondrial DNA or nuclear DNA that lead to dysfunction of the mitochondria and inadequate production of energy.

no.svg

Multigenic or multifactor Inheritance involving many factors, of which at least one is genetic but none is of overwhelming importance, as in the causation of a disease by multiple genetic and environmental factors.

no.svg

Not applicable

no.svg

Other names (AKA)

Neonatal death immune deficiency; X-linked immunoneurological disorder

Categories

Congenital and Genetic Diseases; Immune System Diseases

Summary

The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.
orphanet

Orpha Number: 2571

Definition
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.

Clinical description
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.

Etiology
The gene locus has been mapped to Xq26-qter.

Differential 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.

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

Visit the Orphanet disease page for more resources.

Symptoms

This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.

Medical Terms Other Names
Learn More:
HPO ID
30%-79% of people have these symptoms
Decreased circulating IgG2 level
0008348
Functional abnormality of the bladder
0000009
Hemiplegia/hemiparesis
Paralysis or weakness of one side of body
0004374
Hyperreflexia
Increased reflexes
0001347
Hypertonia
0001276
Nyctalopia
Poor night vision
Night-blindness
Night blindness

[ more ]

0000662
Nystagmus
Involuntary, rapid, rhythmic eye movements
0000639
Recurrent respiratory infections
Frequent respiratory infections
Multiple respiratory infections
respiratory infections, recurrent
Susceptibility to respiratory infections

[ more ]

0002205
5%-29% of people have these symptoms
Abnormal pleura morphology
0002103
Cataract
Clouding of the lens of the eye
Cloudy lens

[ more ]

0000518
Myopathy
Muscle tissue disease
0003198
Percent of people who have these symptoms is not available through HPO
Brisk reflexes
0001348
Neonatal death
Neonatal lethal
0003811
Neonatal hypotonia
Low muscle tone, in neonatal onset
0001319
Progressive proximal muscle weakness
0009073
Small for gestational age
Birth weight less than 10th percentile
Low birth weight

[ more ]

0001518
Spastic paraplegia
0001258
X-linked dominant inheritance
0001423

Learn more

These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.

In-Depth Information

  • The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
  • Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine. 
  • Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
  • PubMed is a searchable database of medical literature and lists journal articles that discuss Woods Black Norbury syndrome. Click on the link to view a sample search on this topic.