'zellwegers syndrome' (Zellweger Syndrome)
Definition : An autosomal recessive disorder due to defects in PEROXISOME biogenesis which involves more than 13 genes encoding peroxin proteins of the peroxisomal membrane and matrix. Zellweger syndrome is typically seen in the neonatal period with features such as dysmorphic skull; MUSCLE HYPOTONIA; SENSORINEURAL HEARING LOSS; visual compromise; SEIZURES; progressive degeneration of the KIDNEYS and the LIVER. Zellweger-like syndrome refers to phenotypes resembling the neonatal Zellweger syndrome but seen in children or adults with apparently intact peroxisome biogenesis.
Source : National Library of Medicine (MeSH 2007)
Definition : An autosomal recessive disorder due to defects in PEROXISOME biogenesis which involves more than 13 genes encoding peroxin proteins of the peroxisomal membrane and matrix. Zellweger syndrome is typically seen in the neonatal period with features such as dysmorphic skull; MUSCLE HYPOTONIA; SENSORINEURAL HEARING LOSS; visual compromise; SEIZURES; progressive degeneration of the KIDNEYS and the LIVER. Zellweger-like syndrome refers to phenotypes resembling the neonatal Zellweger syndrome but seen in children or adults with apparently intact peroxisome biogenesis.
Source : National Library of Medicine (MeSH 2007)


Using this criteria, we found physicians in the following specialties who are likely to address 'zellwegers syndrome' (Zellweger Syndrome)

Matches within Child Neurology
Gary Hsich, MD Cleveland Clinic, Cleveland, OH
Specialty : Child Neurology
Subspecialty/Area of Concentration : Neurodevelopmental Disabilities(Neurology), Neurometabolic Disorders
Special Interests : Adrenoleukodystrophy, Fabry Disease, Ataxia Telangiectasia, Metabolic Brain Diseases, Acute Disseminated Encephalomyelitis, Epilepsy, Tourette Syndrome, Hallervorden-Spatz Syndrome, Wilson's Disease, Hippel-Lindau Disease, Hydranencephaly, Hydrocephalus, Creutzfeldt-Jakob Syndrome, Menkes Kinky Hair Syndrome, Globoid Cell Leukodystrophy, Metachromatic Leukodystrophy, Myasthenia Gravis, Transverse Myelitis, Narcolepsy, Niemann-Pick Diseases, Olivopontocerebellar Atrophies, Pseudotumor Cerebri, Refsum Disease, Sandhoff Disease, Infantile Spasms, Lumbar Puncture, Sturge-Weber Syndrome, Tay-Sachs Disease, Zellweger Syndrome, Holoprosencephaly, Angelman Syndrome, Canavan Disease, Miller Fisher Syndrome, Guillain-Barre Syndrome, Congenital Myasthenic Syndromes, Essential Tremor, Bell's Palsy, Pelizaeus-Merzbacher Disease, Inborn Metabolic Brain Diseases, Neonatal Myasthenia Gravis, Alexander Disease, Shaken Baby Syndrome, Infantile Refsum Disease, Opsoclonus-Myoclonus Syndrome, Hemimegalencephaly
Match
  Specialty  Subspecialty  Special Interests
Sumit Parikh, MD Cleveland Clinic, Cleveland, OH
Specialty : Child Neurology
Subspecialty/Area of Concentration : Neurodevelopmental Disabilities(Neurology), Neurometabolic Disorders, Neurodegenerative Disease Neurology
Special Interests : Adrenoleukodystrophy, Anencephaly, Ataxia Telangiectasia, Metabolic Brain Diseases, Craniosynostoses, Down Syndrome, Acute Disseminated Encephalomyelitis, Fragile X Syndrome, Tourette Syndrome, Hallervorden-Spatz Syndrome, Headache, Wilson's Disease, Kearns-Sayer Syndrome, Menkes Kinky Hair Syndrome, Globoid Cell Leukodystrophy, Metachromatic Leukodystrophy, Meningitis, Microcephaly, Spinal Muscular Atrophy, Muscular Dystrophies, Refsum Disease, Reye Syndrome, Sandhoff Disease, Progressive Supranuclear Palsy, Tay-Sachs Disease, Spinal Muscular Atrophies of Childhood, Zellweger Syndrome, Rett Syndrome, Angelman Syndrome, Mitochondrial Encephalomyopathies, Mitochondrial Myopathies, Canavan Disease, Williams Syndrome, Pelizaeus-Merzbacher Disease, Inborn Metabolic Brain Diseases, Choreatic Disorders, Mitochondrial Diseases, Alexander Disease, Opsoclonus-Myoclonus Syndrome, Autism, Developmental Disorders
Match
  Specialty  Subspecialty  Special Interests
 

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