Presentation
The information presented is not intended to replace medical advice or treatment from your own doctor or healthcare provider. [wellnessadvocate.com]
Classification level: Disorder Synonym(s): Fenton-Wilkinson-Toselano syndrome Prevalence: <1 / 1 000 000 Inheritance: Unknown Age of onset: Infancy, Childhood ICD-10: Q87.8 OMIM: - UMLS: - MeSH: - GARD: 2287 MedDRA: - The documents contained in this web site are presented [orpha.net]
Entire Body System
- Malnutrition
Hypopituitarism Hypothyroidism Ichthyosis Isopropyl Alcohol Isotretinoin Jimsonweed poisoning Johnston Aarons Schelley syndrome Kawanism Keratosis pilaris Kerosene Leprechaunism Leukaemia Lichen sclerosis crinkled skin Low humidity Lymphoma Malignancy Malnutrition [wikidoc.org]
Neurologic
- Seizure
1.4.1 Fami 1.4.1.1 Famil 1.4.1.1.1 Famili 1.5 Fan-Faz 2 Fe 2.1 Fea-Fer 2.2 Fet 3 Fg 4 Fi 4.1 Fib-Fil 4.2 Fin-Fit 5 Fl 6 Fo 7 Fr 7.1 Fra 7.2 Fre-Fri 7.3 Fro-Fru 7.4 Fry 8 Fu Fa Fab Fabry's disease Fac Face-Faci Faces syndrome Facial asymmetry temporal seizures [bionity.com]
They are subject to great pain, eye strain, facial tension, migraine headaches, nausea, vomiting, seizures, and some experience convulsions. [photophobics.org]
Fabry disease FACES syndrome Facial asymetry temporal seizures Facial clefting corpus callosum agenesis Facial dysmorphism shawl scrotum joint laxity syndrome Facial ectodermal dysplasia Facies unusual arthrogryposis advanced skeletal malformations Facio [personalizedcause.com]
- Neurologic Manifestation
Manifestations ⌊Dyskinesias ⌊Ataxia ⌊Cerebellar Ataxia (Cerebellar Incoordination) ⌊Fenton-Wilkinson-Toselano Syndrome Cerebellar Ataxia (Cerebellar Incoordination) ⌊ Hereditary Cerebellar Ataxias ⌊ Spinocerebellar Ataxias ⌊ Cerebellar Ataxia-Deafness [wellnessadvocate.com]
- Areflexia
Cerebellar Incoordination) ⌊Fenton-Wilkinson-Toselano Syndrome Cerebellar Ataxia (Cerebellar Incoordination) ⌊ Hereditary Cerebellar Ataxias ⌊ Spinocerebellar Ataxias ⌊ Cerebellar Ataxia-Deafness ⌊ Reardon Wilson Cavanagh Syndrome ⌊ Cerebellar Ataxia Areflexia [wellnessadvocate.com]
- Neglect
They have overlooked and neglected these special people with such severe eye sensitivity that their lives are greatly impacted negatively on a daily basis. They cannot go to work, school, shopping, or most outdoor social events. [photophobics.org]
Treatment
The following resources can be used to stay informed about new treatments and research results related to a rare disease: PubMed PubMed is a database of published research articles. [rarediseases.info.nih.gov]
The information presented is not intended to replace medical advice or treatment from your own doctor or healthcare provider. [wellnessadvocate.com]
The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment. [orpha.net]
Xeroderma Patient Handouts on Xeroderma Directions to Hospitals Treating Xeroderma Risk calculators and risk factors for Xeroderma Healthcare Provider Resources Symptoms of Xeroderma Causes & Risk Factors for Xeroderma Diagnostic studies for Xeroderma Treatment [wikidoc.org]
Epidemiology
Fenton Wilkinson Toselano syndrome Prevalence Prevalence estimates on Rare Medical Network websites are calculated based on data available from numerous sources, including US and European government statistics, the NIH, Orphanet, and published epidemiologic [raremedicalnews.com]
Pathophysiology
Pathophysiology Unknown. Diagnosis Diagnosis is clinical and biochemical. Low serum tryptophan levels with normal 5-hydroxytryptophan pathways, low urinary N-methyl nicotinamide levels, and absent 5-hydroxyanthranilic acid are observed. [accesspediatrics.mhmedical.com]
Prevention
And are not intended to diagnose, treat, cure or prevent disease. The information presented is not intended to replace medical advice or treatment from your own doctor or healthcare provider. [wellnessadvocate.com]