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

Severe intellectual disability is often present. [rarediseases.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]

• Developmental Delay

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

  delay, and the presence of skeletal dysplasias-the first is a classical presentation of Galloway–Mowat syndrome, a second syndrome of microcephaly, nephrotic syndrome, and developmental delay (MNSDD), and a third syndrome of microcephaly, developmental [ncbi.nlm.nih.gov]

  Nephrotic syndrome, microcephaly, and developmental delay: three separate syndromes. Am J Med Genet. 1999;82(3):257–60. 4. Colin E, Huynh Cong E, Mollet G, Guichet A, Gribouval O, Arrondel C, et al. [ojrd.biomedcentral.com]

  Developmental abnormalities in affected infants and children may include an inability to perform certain movement (motor) skills normal for their age (e.g., sitting up, crawling, walking, and other developmental milestones) and a profound delay in the [rarediseases.org]

• 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]

  stature [Meyers et al., 1999]. [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]

• 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]

  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]

  Eye exam revealed intermittent alternating exotropia, partial optic atrophy, cortical visual impairment, and temporal optic disc pallor. Renal ultrasound and metabolic screening have remained normal until age 1.5 years. [ncbi.nlm.nih.gov]

• 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]

  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]

  Eye exam revealed intermittent alternating exotropia, partial optic atrophy, cortical visual impairment, and temporal optic disc pallor. Renal ultrasound and metabolic screening have remained normal until age 1.5 years. [ncbi.nlm.nih.gov]

• 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]

  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]

• 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]

  Physical features may include malformations of the head and facial (craniofacial) area including microcephaly, which can be present at birth or develop shortly after birth, an abnormally high, narrow forehead and unusually small jaw bones (micrognathia [rarediseases.org]

• 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]

  The main clinical manifestations included postnatal microcephaly, a coarse face, severe intellectual disability, seizures, cerebellar ataxia, optic atrophy, and late-onset nephrotic syndrome [4,5,6,7,8]. [ojrd.biomedcentral.com]

  However, the onset, type, and frequency of the seizures as their response to therapy varied greatly between the patients as well. [ncbi.nlm.nih.gov]

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]

Workup included karyotype of 46,XX, and normal acylcarnitines, CPK (creatine phosphokinase), and mass spectrometric analysis of transferrin. [ncbi.nlm.nih.gov]

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

(July 2017) Treatment[edit] This section is empty. You can help by adding to it. (July 2017) References[edit] ^ a b Cooperstone BG, Friedman A, Kaplan BS (Aug 1993). [en.wikipedia.org]

61 Lin CC...Shih CS 11519896 2001 48 Diagnostic dilemmas in four infants with nephrotic syndrome, microcephaly and severe developmental delay. 61 de Vries BB...Winter RM 11310991 2001 49 A stepwise approach to the treatment of early onset nephrotic syndrome [malacards.org]

The patient from family 2286 was born at 37 GW by NSD following treatment for premature labor to double first-cousin parents. [ncbi.nlm.nih.gov]

The proteinuria was progressive and unresponsive to corticosteroid treatment, and this eventually resulted in massive proteinuria (range of urine protein to creatinine ratio, 20.4–740) and renal function impairment. [ojrd.biomedcentral.com]

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

From a pathological point of view, Keith et al. showed that children with disordered neuronal migration tend to have a worse prognosis (true GAMOS), and those without gyral abnormalities have a better prognosis [19]. [ojrd.biomedcentral.com]

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