Treatment-resistant nephrotic syndrome generally presents in the third month of life, but albuminuria may be present from birth 1. Etiology Five monogenic mutations have been implicated in the pathogenesis of Galloway-Mowat syndrome. [radiopaedia.org]

(original magnification × 400). c Many granular casts are present with marked tubular ectasia. [ojrd.biomedcentral.com]

Continuous variables are presented as medians (ranges), and categorical variables are presented as percentages. [frontiersin.org]

Among the recruited cohort, consanguinity was present in 63% of parents, suggesting some bias in sampling towards those with affected children due to recessive disease. [ncbi.nlm.nih.gov]

Severe intellectual disability is often present. [rarediseases.org]

• Developmental Delay

  delays, and a propensity for seizures. [malacards.org]

  KiranFarkhanda Hafeez Medicine Journal of the College of Physicians and Surgeons--Pakistan : JCPSP 2008 This case report describes Galloway-Mowat syndrome in a young boy suffering from congenital microcephaly, developmental delay, seizures and various [semanticscholar.org]

  Abstract Galloway-Mowat syndrome is an autosomal recessive disorder presenting as early-onset nephrotic syndrome and central nervous system abnormalities, including microcephaly and developmental delays. [pedneur.com]

  Abstract The combination of central nervous system abnormalities and renal impairment is a notable characteristic of Galloway-Mowat syndrome (GAMOS), a disease which often accompanies microcephaly, developmental delay, and nephrotic syndrome. [koreascience.kr]

  Galloway-Mowat syndrome-7 (GAMOS7) is an autosomal recessive disorder characterized by developmental delay, microcephaly, and early-onset nephrotic syndrome (summary by Rosti et al., 2017). [ncbi.nlm.nih.gov]

• Arachnodactyly

  Additional variable features are visual impairment and arachnodactyly. Most patients die in early childhood. GAMOS7 inheritance is autosomal recessive. MalaCards based summary : Galloway-Mowat Syndrome 7, is also known as gamos7. [malacards.org]

  Skeletal abnormalities such as arachnodactyly or camptodactyly (Fig. 2) were also noted in all patients. Other dysmorphisms included a high arch palate (5/6). [ojrd.biomedcentral.com]

  Arachnodactyly MedGen UID: 2047 •Concept ID: C0003706 • Congenital Abnormality Abnormally long and slender fingers ("spider fingers"). [ncbi.nlm.nih.gov]

  Dysmorphic features include short stature, facial dysmorphism (including a high, narrow forehead, hypertelorism, almond-shape eyes, large and low set ears, and micrognathia) and more variably arachnodactyly, camptodactyly and clasp thumb. [orpha.net]

  In a large study conducted by Braun et al. [11], most of the Taiwanese patients had arachnodactyly and carried OSGEP mutations. [bmcmedgenet.biomedcentral.com]

• Short Stature

  Affiliated tissues include eye, brain and kidney, and related phenotypes are abnormal facial shape and short stature OMIM : 56 Galloway-Mowat syndrome-7 (GAMOS7) is an autosomal recessive disorder characterized by developmental delay, microcephaly, and [malacards.org]

  Although there is no universally accepted definition of short stature, many refer to "short stature" as height more than 2 standard deviations below the mean for age and gender (or below the 3rd percentile for age and gender dependent norms). [ncbi.nlm.nih.gov]

  Dysmorphic features include short stature, facial dysmorphism (including a high, narrow forehead, hypertelorism, almond-shape eyes, large and low set ears, and micrognathia) and more variably arachnodactyly, camptodactyly and clasp thumb. [orpha.net]

• Pneumonia

  Prevention of diarrhea and pneumonia by zinc supplementation in children in developing countries: Pooled analysis of randomized controlled trials. J Pediatr. 1999;135:689 - 697. * Godfrey HR, Godfrey NJ, Godfrey JC, et al. [mscenter.med.nyu.edu]

  […] inflammation of the esophagus (esophagitis); choking; closure of the larynx due to sudden, violent laryngeal contractions (laryngospasm); an inflammatory condition of the lungs caused by the entrance of food particles into the respiratory passages (aspiration pneumonia [rarediseases.org]

• Hypertension

  The causes of death included unknown cause (59%, 16/27), multiorgan failure (22%, 6/27), cardiopulmonary collapse (11%, 3/27), hypertensive crisis (4%, 1/27) and neurological deterioration (4%, 1/27). [frontiersin.org]

  Effects of captopril and enalapril on zinc metabolism in hypertensive patients. J Am Coll Nutr. 1998;17:75 - 78. * Sturniolo GC, Montino MC, Rossetto L, et al. Inhibition of gastric acid secretion reduces zinc absorption in man. [mscenter.med.nyu.edu]

• Visual Impairment

  Additional variable features are visual impairment and arachnodactyly. Most patients die in early childhood. GAMOS7 inheritance is autosomal recessive. MalaCards based summary : Galloway-Mowat Syndrome 7, is also known as gamos7. [malacards.org]

  Diagnostic methods The coexistence of albuminuria and CNS abnormalities, or of CNS anomalies and functional visual impairment in infants and children is suggestive of the diagnosis. Molecular analysis may confirm the diagnosis. [orpha.net]

  Other features include, but are not limited to, hiatal hernia, seizures, dystonia, generalized hypotonia, and visual impairment. These features are variable among patients, and have overlapping presentations with other disorders. [preventiongenetics.com]

  Neurological abnormalities can include: various malformations of the brain, seizures, muscle spasms and abnormal movements (dystonia), diminished muscle tone throughout the body (generalized hypotonia), and visual impairment and abnormal eye movements [rarediseases.org]

• Visual Impairment

  Additional variable features are visual impairment and arachnodactyly. Most patients die in early childhood. GAMOS7 inheritance is autosomal recessive. MalaCards based summary : Galloway-Mowat Syndrome 7, is also known as gamos7. [malacards.org]

  Diagnostic methods The coexistence of albuminuria and CNS abnormalities, or of CNS anomalies and functional visual impairment in infants and children is suggestive of the diagnosis. Molecular analysis may confirm the diagnosis. [orpha.net]

  Other features include, but are not limited to, hiatal hernia, seizures, dystonia, generalized hypotonia, and visual impairment. These features are variable among patients, and have overlapping presentations with other disorders. [preventiongenetics.com]

  Neurological abnormalities can include: various malformations of the brain, seizures, muscle spasms and abnormal movements (dystonia), diminished muscle tone throughout the body (generalized hypotonia), and visual impairment and abnormal eye movements [rarediseases.org]

• Psychomotor Retardation

  Congenital microcephaly, infantile spasms, psychomotor retardation, and nephrotic syndrome in two sibs. Eur J Pediatr. 1987; 146: 532-536 Nakazato H. Hattori S. Karashima S. et al. [pedneur.com]

  Congenital microcephaly, infatile spasms, psychomotor retardation and nephritic syndrome in two sibe. Eur J Pediatr 1987;146:532-6. 7. Joh K, Usui N, Aizawa S, et al. [sjkdt.org]

• Narrow Forehead

  Most patients show facial dysmorphism characterized by a small, narrow forehead, large/floppy ears, deep-set eyes, hypertelorism and micrognathia. Additional variable features are visual impairment and arachnodactyly. [malacards.org]

  His heads circumference was 48 cm (below 3 rd percentile), with abnormal shaped skull, narrow forehead, large and low set ears, micrognathia with malocclusion and a moon shaped face, [Figure - 1],[Figure - 2]. [sjkdt.org]

  Narrow forehead MedGen UID: 326956 •Concept ID: C1839758 • Finding Width of the forehead or distance between the frontotemporales is more than two standard deviations below the mean (objective); or apparently narrow intertemporal region (subjective). [ncbi.nlm.nih.gov]

  Dysmorphic features include short stature, facial dysmorphism (including a high, narrow forehead, hypertelorism, almond-shape eyes, large and low set ears, and micrognathia) and more variably arachnodactyly, camptodactyly and clasp thumb. [orpha.net]

  Physical examination showed some dysmorphic features, including microcephaly, a narrow forehead, large and floppy ears, arachnodactyly and camptodactyly. He showed a developmental delay and failure to thrive. [frontiersin.org]

• Hypertelorism

  Most patients show facial dysmorphism characterized by a small, narrow forehead, large/floppy ears, deep-set eyes, hypertelorism and micrognathia. Additional variable features are visual impairment and arachnodactyly. [malacards.org]

  Dysmorphic features include short stature, facial dysmorphism (including a high, narrow forehead, hypertelorism, almond-shape eyes, large and low set ears, and micrognathia) and more variably arachnodactyly, camptodactyly and clasp thumb. [orpha.net]

  He exhibited ocular hypertelorism, micrognathia, and low-set ears. A brain MRI revealed lissencephaly. Generalized edema with massive proteinuria developed soon after birth. [bmcmedgenet.biomedcentral.com]

  Physical examination showed microcephaly (26.5 cm, < third centile), hypertelorism and micrognathia. He had mild proteinuria at 3 days of age but had no other abnormal urinalysis results. [frontiersin.org]

  The consistent facial dysmorphic features included large and floppy ears, micrognathia, hypertelorism, microphthalmia, sunken eyeballs, coarse hair, a narrow or receding forehead, a beak nose, and prominent glabella with a broad nasal bridge. [ojrd.biomedcentral.com]

• Seizure

  Galloway-Mowat syndrome 7: A form of Galloway-Mowat syndrome, a severe renal-neurological disease characterized by early-onset nephrotic syndrome associated with microcephaly, central nervous system abnormalities, developmental delays, and a propensity for seizures [malacards.org]

  Therapy with anti-seizure (anticonvulsant) drugs may be prescribed for affected individuals who experience seizures to help prevent, reduce, or control seizures. [rarediseases.org]

Clinical Testing and Workup In affected infants, symptoms associated with nephrotic syndrome may become apparent within days, weeks, months, or in some cases, years after birth. [rarediseases.org]

Treatment and prognosis There is no treatment for Galloway-Mowat syndrome 1. Affected individuals may survive for one year 1. References Promoted articles (advertising) [radiopaedia.org]

Zinc acexamate versus famotidine in the treatment of acute duodenal ulcer [in Spanish; English abstract]. Rev Esp Enferm Dig. 1996;88:757 - 762. * Simkin PA. Treatment of rheumatoid arthritis with oral zinc sulfate. [mscenter.med.nyu.edu]

Management and treatment There is no specific treatment available. Epilepsy may be intractable. The nephrotic syndrome does not respond to either steroid or immunosuppressive therapy. Renal transplant may be considered for ESKD. [orpha.net]

Treatment with corticosteroids and/or immunosuppressive drugs has not been effective for nephrotic syndrome associated with Galloway-Mowat syndrome. [rarediseases.org]

Prognosis The prognosis is poor; children with early-onset NS typically die during the first year of life due to ESKD. Longer survival is reported for children with later onset NS. [orpha.net]

Treatment and prognosis There is no treatment for Galloway-Mowat syndrome 1. Affected individuals may survive for one year 1. References Promoted articles (advertising) [radiopaedia.org]

Parents should talk to the physician and medical team about their child’s specific case, associated symptoms and overall prognosis. [rarediseases.org]

Etiology Five monogenic mutations have been implicated in the pathogenesis of Galloway-Mowat syndrome. WD repeat-containing protein 73 (WDR73), which is a critical scaffold component of protein-complex assembly, was the first to be identified 1,2. [radiopaedia.org]

Etiology Galloway-Mowat is a genetically heterogeneous condition with causative mutations in at least seven genes, four of which code subunits of Kinase, Endopeptidase and Other Proteins of small Size (KEOPS) complex. [orpha.net]

Summary Epidemiology More than 100 cases have been reported to date. Males and females are equally affected. [orpha.net]

The identification of proteins interacting with WDR73 and/or mutations in other genes associated with GMS will shed more light on the role of WDR73 and the pathophysiology of this very rare condition. Acknowledgments We thank Moin A. [ncbi.nlm.nih.gov]

WDR73 loss-of-function, and support the consensus that proper regulation of UsnRNA maturation, transcription initiation and cell cycle control are all critical in maintaining the health of post-mitotic cells such as glomerular podocytes and neurons, and preventing [hal.archives-ouvertes.fr]

Prevention of diarrhea and pneumonia by zinc supplementation in children in developing countries: Pooled analysis of randomized controlled trials. J Pediatr. 1999;135:689 - 697. * Godfrey HR, Godfrey NJ, Godfrey JC, et al. [mscenter.med.nyu.edu]

Therapy with anti-seizure (anticonvulsant) drugs may be prescribed for affected individuals who experience seizures to help prevent, reduce, or control seizures. [rarediseases.org]