Disease Information for Sjogren-Larsson syndrome

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Clinical Manifestations
Signs & Symptoms
Genital Hypoplasia/Male
Penis, small (Micropenis)
Parotid swelling
Submandibular/lymph gland enlarged
Idiocy/signs
Mental Deficiency Child
Paralysis
Spastic paralysis/signs
Spastic paraplegia/signs
Dysmorphic dwarfism/short stature
Anosmia/Loss of sense of smell
Decreased sense of smell
Short stature
Short stature Child
Disease Progression
Course/Chronic disorder
Course/Chronic only
Demographics & Risk Factors
Population Group
Child
Population/Pediatrics population
Family History
Family history/Dwarfism
Family history/Parental consanguinity
Sex & Age Groups
Population/Child
Population/Child-Infant Only
Population/Children/all
Associated Diseases & Rule outs
Rule Outs
Ichthyosis congenita
Associated Disease & Complications
Dwarfism
Ichthyosis
Ichthyosis congenita
Inflammatory Polyneuropathy Syndrome
Inflammatory polyneuropathy/demyelinating/chronic
Mental retardation
Microcephaly/oligophrenia
Nanism/dwarfism
Paraplegia
Paraplegia, spastic
Retinitis pigmentosa
Sjogren-Larsson syndrome
Polyneuropathy
Disease Mechanism & Classification
Class
CLASS/Pediatric disorders (ex)
CLASS/Dermatologic/Subcutaneous (category)
CLASS/Systemic/no comment (category)
Pathophysiology
Pathophysiology/Genomic indentifiers (polymorphism/snip/mutations)
Process
PROCESS/Autosomal recessive disorder (ex)
PROCESS/Congenital/developmental (category)
PROCESS/Hereditofamilial (category)
PROCESS/INCIDENCE/Esoteric disease (example)
PROCESS/INCIDENCE/Extremely rare disease
PROCESS/Hypogonadotropic hypogonadism/congenital
PROCESS/Anomalies/Deformities/Malformations (EX)
Synonyms
Synonym
congenital ichthyosis mental retardation spasticity syndrome, FALDH DEFICIENCY, FAO Fatty alcoh nicotin aden dinuclet oxidas reductas def, FAO Fatty alcohol nicotinamide adenine dinucleotide oxidase reductase deficiency, FAO Fatty alcoh NAD ox red def, Fat alcoh NAD oxid reduct def, FATTY ALCOHOL NAD+ OXIDOREDUCTASE DEFICIENCY, Fatty alcohol nicotinamid aden dinucleot oxidoreductas def, Fatty alcohol nicotinamide adenine dinucleotide oxidoreductase deficiency, FATTY ALDEHYDE DEHYDROGENASE DEFIC DIS, FATTY ALDEHYDE DEHYDROGENASE DEFICIENCY, Fatty Aldehyde Dehydrogenase Deficiency Disease, ICHTHYOSIS SPASTIC NEUROLOGIC DISORDER AND OLIGOPHRENIA, ichthyosis spastic neurologic disorder oligophrenia syndrome, ichthyotic idiocy, mental deficiency spasticity congenital ichthyosis syndrome, oligophrenia ichthyosis syndrome, Sjoegren Larsson syndrome, Sjogren Larsson syndrome, Sjogren Larsson, Sjögren Larsson, Sjogren Larsson syndrome, Sjögren Larsson syndrome, Sjogren Larsson syndrome (disorder), Sjögren Larsson syndrome (disorder), Sjogren Larsson syndrome (SLS), Sjogren Larsson's syndrome, Sjögren Larsson's syndrome, SLS, spastic quadriplegia congenital ichthyosiform erythroderma oligophrenia syndrome, Synonym/Oligophrenia-ichthyosis-spastic diplegia, Synonym/Rud's syndrome
Definition

Rare syndrome of autosomal recessive inheritance characterized by ichthyosis, mental retardation, and spastic pyramidal symptoms. It is associated with a defect in fatty alcohol metabolism.

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External Links Related to Sjogren-Larsson syndrome
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PubMed (National Library of Medicine)
NGC (National Guideline Clearinghouse)
Medscape (eMedicine)
Harrison's Online (accessmedicine)
NEJM (The New England Journal of Medicine)
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