Glaucoma or buphthalmos may be present. A related autosomal recessive disorder, Fukuyama congenital muscular dystrophy, consists of similar but less severe brain changes and congenital muscular dystrophy. [casereports.bmj.com]

It is primarily characterized by: fetal hydrocephalus: almost always present neuronal migrational anomalies: agyria (cobblestone lissencephaly / lissencephaly type II) distinctive dorsal "kink" at the mesencephalic-pontine junction7 Dandy Walker continuum [radiopaedia.org]

The anterior part of the retina presented as a primitive homogeneous layer with a cell-free space that might be interpreted as the primary optic ventricle. [link.springer.com]

Additionally, the uniqueness of the present case also lies in unilateral renal involvement. [jmhg.springeropen.com]

Strikingly, there is also large clinical variability and mutations in these genes have also been identified for other muscular dystrophy-dystroglycanopathy syndromes, which are typically milder in their phenotypic presentation. [oxfordmedicine.com]

• Heart Disease

  Other features include congenital heart disease, unilateral multicystic kidney, and previously unreported findings of bilateral clenched hands and talipes equinovarus. [jmhg.springeropen.com]

• Myopathy

  We report a patient with an inflammatory myopathy that preceded dystrophic changes. [cambridge.org]

  The collagen VI-related myopathies: muscle meets its matrix. Nat Rev Neurol. 2011 Jun 21. 7(7):379-90. [Medline]. Scacheri PC, Gillanders EM, Subramony SH, et al. Novel mutations in collagen VI genes: expansion of the Bethlem myopathy phenotype. [medscape.com]

  Walker–Warburg Syndrome Tests Available Comprehensive Brain Malformations Panel Cortical Brain Malformations Panel Neuromuscular Disorders Panel Limb-Girdle Muscular Dystrophy Panel Congenital Myopathy and Muscular Dystrophy Panel Lissencephaly Panel [genedx.com]

  A combination of congenital muscular dystrophy in association with ocular, cerebellar, and cerebral anomalies in addition to myopathy is considered to be pathognomonic of a spectrum of clinically and genetically heterogeneous disorders including Walker–Warburg [jmhg.springeropen.com]

• Low Set Ears

  Assessment of the fetal face revealed macrocephaly, low-set ears, and micrognathia. [jmhg.springeropen.com]

It does not provide medical advice, diagnosis or treatment. This content is not intended to be a substitute for professional medical advice, diagnosis, or treatment. [musculardystrophynews.com]

There is no specific treatment and management is mainly supportive. History and etymology It was named after Arthur Earl Walker and Mette Warburg. References Promoted articles (advertising) [radiopaedia.org]

Standard Therapies Treatment There is no cure for WWS at this time and treatment is individualized based on specific symptoms. [rarediseases.org]

SYNE1, TAZ, TCAP, TIA1, TK2, TMEM5, TNNI2, TNNT1, TNPO3, TOR1AIP1, TPM2, TPM3, TRAPPC11, TRIM32, TRIP4, TRPV4, TTN, UBA1, VCP, VRK1 Clinical Utility: Molecular confirmation of a clinical diagnosis Identification of at-risk family members Assist with treatment [genedx.com]

Surgical interventions are commonly required for treatment of hydrocephalus or to restore malformations. Affected patients typically die before the age of 3 of respiratory failure and pneumonia. [ai-online.info]

The overall prognosis is poor with most infants dying within the 1st year of life. [radiopaedia.org]

The couple was informed with the poor prognosis of the condition that was confirmed by molecular testing; subsequently, they opted to terminate the pregnancy at 24 weeks’ gestation and autopsy was declined. [jmhg.springeropen.com]

The Walker-Warburg syndrome (WWS) is a fatal dysmorphic disorder of unknown etiology, but strongly suggests an autosomal recessive mode of inheritance. [tandfonline.com]

Our case supports both the notion of an aberrant inflammatory process that is likely under genetic control or etiologic heterogeneity (phenocopies) underlying this syndrome. [cambridge.org]

Diagnosis and etiology of congenital muscular dystrophy. Neurology. 2008 Jul 29. 71 (5):312-21. [Medline]. Okada M, Kawahara G, Noguchi S, Sugie K, Murayama K, Nonaka I, et al. [medscape.com]

Physiotherapy, or physical therapy, can help to prevent the worsening of contractures. Gastrostomy tubes, known as g-tubes, can help with feeding difficulties. [musculardystrophynews.com]

Mutations in the genes associated with Walker-Warburg syndrome prevent glycosylation of α-dystroglycan, which disrupts its normal function. [medlineplus.gov]

No improvement in visual function was expected, but for facial cosmetic reasons and to prevent secondary corneal injuries such as corneal perforation, cyclocoagulation was considered. [karger.com]

Treatments might include anti-seizure medication, surgery for hydrocephalus, such as the implantation of shunts to drain excess cerebrospinal fluid and reduce pressure, and physical therapy to improve muscle strength and prevent contractures. [rarediseases.org]

These ocular ultrasound findings have been detected at a relatively advanced stage of gestation preventing early intervention and counseling [23]. [jmhg.springeropen.com]