Rare Hematology News

Disease Profile

Walker-Warburg 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.
1-9 / 1 000 000

331 - 2,979

US Estimated

1-9 / 1 000 000

514 - 4,622

Europe Estimated

Age of onset

Infancy

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ICD-10

G71.0

Inheritance

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

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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

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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.

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

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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.

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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.

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Not applicable

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Other names (AKA)

Hydrocephalus, agyria and retinal dysplasia; Hard syndrome; Hard +/E syndrome;

Categories

Congenital and Genetic Diseases; Eye diseases; Metabolic disorders;

Summary

Walker-Warburg syndrome (WWS) is a severe form of congenital muscular dystrophy associated with brain and eye abnormalities. Signs and symptoms are typically present at birth and include hypotonia, muscle weakness, developmental delay, intellectual disability and occasional seizures. It is also associated with lissencephaly, hydrocephalus, cerebellar malformations, eye abnormalities, and other abnormalities. Most children do not survive beyond the age of three years. It may be caused by mutations in any of several genes including the POMT1, POMT2 and FKRP genes, although in many individuals the genetic cause is unknown. WWS is inherited in an autosomal recessive manner. No specific treatment is available; management is generally supportive and preventive.[1]

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
80%-99% of people have these symptoms
Abnormal aldolase level
0012400
Abnormal circulating creatine kinase concentration
Abnormal levels of creatine kinase in blood
0040081
Abnormal lactate dehydrogenase level
0045040
Aplasia/Hypoplasia involving the skeletal musculature
Absent/small skeletal muscles
Absent/underdeveloped skeletal muscles

[ more ]

0001460
Areflexia
Absent tendon reflexes
0001284
Cerebellar hypoplasia
Small cerebellum
Underdeveloped cerebellum

[ more ]

0001321
Chorioretinal dysplasia
0007731
Global developmental delay
0001263
Hydrocephalus
Too much cerebrospinal fluid in the brain
0000238
Hyporeflexia
Decreased reflex response
Decreased reflexes

[ more ]

0001265
Intellectual disability
Mental deficiency
Mental retardation
Mental retardation, nonspecific
Mental-retardation

[ more ]

0001249
Macrogyria
0007227
Metatarsus valgus
0010508
Muscle weakness
Muscular weakness
0001324
Muscular dystrophy
0003560
Muscular hypotonia
Low or weak muscle tone
0001252
Optic atrophy
0000648
Pachygyria
Fewer and broader ridges in brain
0001302
Polymicrogyria
More grooves in brain
0002126
Retinal detachment
Detached retina
0000541
Retinal dysplasia
0007973
Retinal dystrophy
Breakdown of light-sensitive cells in back of eye
0000556
Skeletal muscle atrophy
Muscle degeneration
Muscle wasting

[ more ]

0003202
Specific learning disability
0001328
30%-79% of people have these symptoms
Absent septum pellucidum
0001331
Agenesis of corpus callosum
0001274
Anophthalmia
Absence of eyeballs
Failure of development of eyeball
Missing eyeball
No eyeball

[ more ]

0000528
Corneal opacity
0007957
Cryptorchidism
Undescended testes
Undescended testis

[ more ]

0000028
Dandy-Walker malformation
0001305
Glaucoma
0000501
Hypoplasia of penis
Underdeveloped penis
0008736
Macrocephaly
Increased size of skull
Large head
Large head circumference

[ more ]

0000256
Microphthalmia
Abnormally small eyeball
0000568
5%-29% of people have these symptoms
Bifid uvula
0000193
Cataract
Clouding of the lens of the eye
Cloudy lens

[ more ]

0000518
Iris coloboma
Cat eye
0000612
Low-set ears
Low set ears
Lowset ears

[ more ]

0000369
Microcephaly
Abnormally small skull
Decreased circumference of cranium
Decreased size of skull
Reduced head circumference
Small head circumference

[ more ]

0000252
Microcornea
Cornea of eye less than 10mm in diameter
0000482
Posteriorly rotated ears
Ears rotated toward back of head
0000358
Protruding ear
Prominent ear
Prominent ears

[ more ]

0000411
Seizure
0001250
Submucous cleft hard palate
0000176
Percent of people who have these symptoms is not available through HPO
Agyria
0031882
Anal atresia
Absent anus
0002023
Atresia of the external auditory canal
Absent ear canal
0000413
Autosomal recessive inheritance
0000007
Blindness
0000618
Buphthalmos
Enlarged eyeball
0000557
Cerebellar dysplasia
0007033
Cleft palate
Cleft roof of mouth
0000175
Cleft upper lip
Harelip
0000204
Coloboma
Notched pupil
0000589
Congenital contracture
0002803
Congenital muscular dystrophy
0003741
Elevated serum creatine kinase
Elevated blood creatine phosphokinase
Elevated circulating creatine phosphokinase
Elevated creatine kinase
Elevated serum CPK
Elevated serum creatine phosphokinase
High serum creatine kinase
Increased CPK
Increased creatine kinase
Increased creatine phosphokinase
Increased serum CK
Increased serum creatine kinase
Increased serum creatine phosphokinase

[ more ]

0003236
Excessive daytime somnolence
Excessive daytime sleepiness
More than typical sleepiness during day

[ more ]

0001262
Hypoplasia of the brainstem
Small brainstem
Underdeveloped brainstem

[ more ]

0002365

Organizations

Support and advocacy groups can help you connect with other patients and families, and they can provide valuable services. Many develop patient-centered information and are the driving force behind research for better treatments and possible cures. They can direct you to research, resources, and services. Many organizations also have experts who serve as medical advisors or provide lists of doctors/clinics. Visit the group’s website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD.

Organizations Supporting this Disease

    Organizations Providing General Support

      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.

      Where to Start

      • Genetics Home Reference contains information on Walker-Warburg syndrome. This website is maintained by the National Library of Medicine.
      • The National Organization for Rare Disorders (NORD) has a report for patients and families about this condition. NORD is a patient advocacy organization for individuals with rare diseases and the organizations that serve them.

        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 Walker-Warburg syndrome. Click on the link to view a sample search on this topic.

          References

          1. Jiri Vajsar and Harry Schachter. Walker-Warburg syndrome. Orphanet Journal of Rare Diseases. August 3, 2006; 1(29):https://www.ojrd.com/content/1/1/29. Accessed 3/22/2011.

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