Symptoma

Galloway-Mowat Syndrome Type 6

GAMOS6

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

Our data thus expand the phenotypic spectrum of WDR4 mutations by demonstrating that, depending on the specific mutated allele, a renal phenotype may be present. [ncbi.nlm.nih.gov]

We reviewed their clinical manifestations, the prenatal and postnatal presentations and ultrasound findings, results of imaging studies, associated anomalies, and outcome on follow-up. [pesquisa.bvsalud.org]

  • Arachnodactyly

    Arachnodactyly or camptodactyly were noted in all patients. Neurological findings consisted of microcephaly, hypotonia, developmental delay, and seizures. Brain imaging studies all showed pachygyria and hypomyelination. [pesquisa.bvsalud.org]

  • Epilepsy

    Galloway-Mowat syndrome: an early-onset progressive encephalopathy with intractable epilepsy associated to renal impairment. Two novel cases and review literature. Seizure. 2010;19:132-135. Dietrich A, Matejas V, Bitzan M, et al. [rarediseases.org]

  • Anemia

    These findings, occurring in association with anemia and an abnormal accumulation of fluid that causes swelling (edema), may indicate a diagnosis of nephrotic syndrome. [rarediseases.org]

  • Projectile Vomiting

    Such gastroesophageal reflux may cause affected infants to spit up and/or vomit repeatedly; in some cases, vomiting may be particularly forceful (projectile vomiting). [rarediseases.org]

  • Skin Edema

    (edema), particularly around the eye sockets (periorbital edema) and in the lowermost parts of the body, such as the ankles (dependent edema). [rarediseases.org]

  • Narrow Forehead

    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]

  • Psychomotor Retardation

    sitting up, crawling, walking, and other developmental milestones) and a profound delay in the attainment of skills requiring the coordination of muscular and mental activity (psychomotor retardation). [rarediseases.org]

  • Seizure

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

    Neurological findings consisted of microcephaly, hypotonia, developmental delay, and seizures. Brain imaging studies all showed pachygyria and hypomyelination. All patients developed early-onset nephrotic syndrome. [pesquisa.bvsalud.org]

  • Convulsions

    Neurological features may include a lack of response to stimuli in the environment and/or episodes of uncontrolled electrical disturbances in the brain that may cause convulsions, spasms, and/or other symptoms (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]

  • Albuminuria

    Urinary analysis may reveal small traces of blood (hematuria) and abnormally high levels of protein (proteinuria), specifically albumin (albuminuria), in the urine. [rarediseases.org]

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]

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