Galloway-Mowat syndrome

Other Names: Galloway Mowat syndrome; Galloway syndrome; Microcephaly nephrosis syndrome; Nephrosis neuronal dysmigration syndrome; Hiatal Hernia-Microcephaly-Nephrosis, Galloway Type; Microcephaly, hiatal hernia, and nephrotic syndrome

Galloway-Mowat syndrome is a rare, neurodegenerative disorder characterized by various developmental and physical abnormalities.

Cause

Galloway-Mowat syndrome may be caused by changes (mutations) in the WDR73 gene

Inheritance

Autosomal recessive inheritance, a 25% chance

Galloway-Mowat syndrome is inherited in an autosomal recessive manner. This means that to be affected, a person must have a mutation in both copies of the responsible gene in each cell. Affected people inherit one mutated copy of the gene from each parent, who is referred to as a carrier. Carriers of an autosomal recessive condition typically do not have any signs or symptoms (they are unaffected). When 2 carriers of an autosomal recessive condition have children, each child has a: 25% (1 in 4) chance to be affected 50% (1 in 2) chance to be an unaffected carrier like each parent 25% chance to be unaffected and not be a carrier

Signs and symptoms

Signs and symptoms may include small head size (microcephaly); developmental delay; [[seizures[[; nephrotic syndrome; hiatal hernia; optic atrophy; movement disorders; and intellectual disability. Other physical abnormalities may also be present.

For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. 80%-99% of people have these symptoms

• Cognitive impairment(Abnormality of cognition)
• Global developmental delay
• Hypoplasia of the ear cartilage(Underdeveloped ear cartilage)
• Microcephaly(Abnormally small skull)
• Nephropathy
• Nephrotic syndrome
• Proteinuria(High urine protein levels)

30%-79% of people have these symptoms

• EEG abnormality
• Hiatus hernia(Stomach hernia)
• Intrauterine growth retardation(Prenatal growth deficiency)
• Macrotia(Large ears)
• Pachygyria(Fewer and broader ridges in brain)
• Premature birth(Premature delivery of affected infants)
• Seizure
• Short stature(Decreased body height)

5%-29% of people have these symptoms

• Abnormality of immune system physiology
• Abnormality of the dentition(Abnormal dentition)
• Abnormality of the intervertebral disk
• Adducted thumb(Inward turned thumb)
• Aqueductal stenosis
• Ataxia
• Camptodactyly of finger(Permanent flexion of the finger)
• Dandy-Walker malformation
• Feeding difficulties(Feeding problems)
• Hemiplegia/hemiparesis(Paralysis or weakness of one side of body)
• Hypertelorism(Wide-set eyes)
• Hypertonia
• Hypotelorism(Abnormally close eyes)
• Micrognathia(Little lower jaw)
• Muscular hypotonia(Low or weak muscle tone)
• Spastic tetraplegia

Diagnosis

The Genetic Testing Registry (GTR) provides information about the labs that offer clinical genetic testing for Galloway-Mowat syndrome. While it is known to be caused by mutations in the WDR73 gene, it has been suggested that other, unidentified genes may also be responsible. In some cases, carrier testing for unaffected relatives may only be available if the specific mutation in the affected family member is known.

Treatment

Affected children often do not survive beyond the first few years of life. Treatment is aimed at the specific signs and symptoms present in each individual.

NIH genetic and rare disease info

• NIH info on Galloway-Mowat syndrome

Galloway-Mowat syndrome is a rare disease.

Galloway-Mowat syndrome Resources
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