National Center for Advancing and Translational Sciences Genetic and Rare Diseases Information Center, a program of the National Center for Advancing and Translational Sciences

Walker-Warburg syndrome


Other Names:
Hydrocephalus, agyria and retinal dysplasia; Hard syndrome; Hard +/- E syndrome; Hydrocephalus, agyria and retinal dysplasia; Hard syndrome; Hard +/- E syndrome; Warburg syndrome; Chemke syndrome; Pagon syndrome; Cerebroocular dysgenesis; Cerebroocular dysplasia muscular dystrophy syndrome; COD-MD syndrome See More
Categories:
This disease is grouped under:
Congenital disorder of glycosylation with developmental anomaly; Congenital muscular alpha-dystroglycanopathy with brain and eye anomalies; Congenital muscular dystrophy; Congenital disorder of glycosylation with developmental anomaly; Congenital muscular alpha-dystroglycanopathy with brain and eye anomalies; Congenital muscular dystrophy; Congenital muscular dystrophy due to dystroglycanopathy See More
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]
Last updated: 3/23/2011

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.

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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 sleepiness 0002189
Hypoplasia of the brainstem
Small brainstem
Underdeveloped brainstem
[ more ] 		0002365
Hypoplasia of the corpus callosum
Underdevelopment of part of brain called corpus callosum
0002079
Hypoplastic male external genitalia
Small male external genitalia
Underdeveloped male genitalia
[ more ] 		0000050
Intellectual disability, profound
IQ less than 20
0002187
Intellectual disability, severe
Early and severe mental retardation
Mental retardation, severe
Severe mental retardation
[ more ] 		0010864
Megalocornea
Enlarged cornea
0000485
Meningoencephalocele 0006888
Microtia
Small ears
Underdeveloped ears
[ more ] 		0008551
Myopia
Close sighted
Near sighted
Near sightedness
Nearsightedness
[ more ] 		0000545
Occipital encephalocele
Brain tissue sticks out through back of skull
0002085
Optic nerve hypoplasia 0000609
Peters anomaly 0000659
Posterior fossa cyst 0007291
Renal dysplasia 0000110
Retinal atrophy 0001105
Severe muscular hypotonia
Severely decreased muscle tone
0006829
Type II lissencephaly 0007260
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Last updated: 7/1/2020
There is currently no cure or treatment for Walker-Warburg syndrome. Management is generally only supportive and preventive. Individuals who develop seizures are typically treated with anticonvulsants. A few children require surgical procedures, such as shunting for hydrocephalus or correction of encephalocele. Physical therapy can be offered to aid in development or prevent worsening of contractures; however, the benefit of this has not been established. Feeding usually needs to be monitored and in some cases, a supplemental nasogastric or gastric feeding tube may be necessary.[1]
Last updated: 3/23/2011

If you need medical advice, you can look for doctors or other healthcare professionals who have experience with this disease. You may find these specialists through advocacy organizations, clinical trials, or articles published in medical journals. You may also want to contact a university or tertiary medical center in your area, because these centers tend to see more complex cases and have the latest technology and treatments.

If you can’t find a specialist in your local area, try contacting national or international specialists. They may be able to refer you to someone they know through conferences or research efforts. Some specialists may be willing to consult with you or your local doctors over the phone or by email if you can't travel to them for care.

You can find more tips in our guide, How to Find a Disease Specialist. We also encourage you to explore the rest of this page to find resources that can help you find specialists.

Healthcare Resources

Related diseases are conditions that have similar signs and symptoms. A health care provider may consider these conditions in the table below when making a diagnosis. Please note that the table may not include all the possible conditions related to this disease.

Conditions with similar signs and symptoms from Orphanet
Differential diagnoses include other types of congenital muscular dystrophies and myopathies (see these terms).
Visit the Orphanet disease page for more information.

Research helps us better understand diseases and can lead to advances in diagnosis and treatment. This section provides resources to help you learn about medical research and ways to get involved.

Clinical Research Resources

  • The Christopher A. Walsh Laboratory is interested in the development of the cerebral cortex. Abnormal development of the cerebral cortex in humans results in epilepsy, autism, intellectual disability, dyslexia, and other learning disorders, and perhaps some psychiatric conditions as well. Several of their projects are directed at trying to understand the basic biology of the cortex by studying the mutations that disturb its development. Conditions that they are currently researching include: double cortex syndrome, periventricular heterotopia, schizencephaly, perisylvian polymicrogyria and Walker Warburg syndrome. Click on the link above to access further information about this research.

  • ClinicalTrials.gov lists trials that are related to Walker-Warburg syndrome. Click on the link to go to ClinicalTrials.gov to read descriptions of these studies.

    Please note: Studies listed on the ClinicalTrials.gov website are listed for informational purposes only; being listed does not reflect an endorsement by GARD or the NIH. We strongly recommend that you talk with a trusted healthcare provider before choosing to participate in any clinical study.

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

Living with a genetic or rare disease can impact the daily lives of patients and families. These resources can help families navigate various aspects of living with a rare disease.

Financial Resources

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.

Questions sent to GARD may be posted here if the information could be helpful to others. We remove all identifying information when posting a question to protect your privacy. If you do not want your question posted, please let us know. Submit a new question

  • My child was diagnosed with Walker-Warburg syndrome. He is unable to sit, stand, walk or speak and has poor head control. What can we do to help him? See answer


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