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Sjögren-Larsson syndrome(SLS)

MedGen UID:
11443
Concept ID:
C0037231
Disease or Syndrome
Synonyms: FADH deficiency; FAO deficiency; FATTY ALCOHOL:NAD+ OXIDOREDUCTASE DEFICIENCY; Fatty aldehyde dehydrogenase deficiency; Ichthyosis, spastic neurologic disorder, and oligophrenia; Sjogren-Larsson Syndrome; SLS
Modes of inheritance:
Autosomal recessive inheritance
MedGen UID:
141025
Concept ID:
C0441748
Intellectual Product
Sources: HPO, OMIM, Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in homozygotes. In the context of medical genetics, autosomal recessive disorders manifest in homozygotes (with two copies of the mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele).
Autosomal recessive inheritance (HPO, OMIM, Orphanet)
SNOMED CT: Sjogren-Larsson syndrome (111303009); Sjögren-Larsson syndrome (111303009); Fatty alcohol-nicotinamide adenine dinucleotide oxidoreductase deficiency (111303009); FAO - Fatty alcohol-nicotinamide adenine dinucleotide oxidase-reductase deficiency (111303009)
 
Gene (location): ALDH3A2 (17p11.2)
OMIM®: 270200
Orphanet: ORPHA816

Definition

Sjogren-Larsson syndrome is an autosomal recessive, early childhood-onset disorder characterized by ichthyosis, mental retardation, spastic paraparesis, macular dystrophy, and leukoencephalopathy. It is caused by deficiency of fatty aldehyde dehydrogenase (summary by Lossos et al., 2006). [from GTR]

Additional descriptions

From OMIM
Sjogren-Larsson syndrome is an autosomal recessive, early childhood-onset disorder characterized by ichthyosis, mental retardation, spastic paraparesis, macular dystrophy, and leukoencephalopathy. It is caused by deficiency of fatty aldehyde dehydrogenase (summary by Lossos et al., 2006).  http://www.omim.org/entry/270200
From GHR
Sjögren-Larsson syndrome is a condition characterized by dry, scaly skin (ichthyosis); neurological problems; and eye problems. These symptoms are apparent by early childhood and usually do not worsen with age.Affected infants tend to be born prematurely. At birth the skin is red (erythema), but later in infancy the skin becomes dry, rough, and scaly with a brownish or yellowish tone. Mild to severe itchiness (pruritus) is also common. These skin abnormalities are generally dispersed over the whole body, most severely affecting the nape of the neck, the torso, and the extremities. The skin of the face is usually not affected.People with this condition may also have neurological signs and symptoms. Most affected individuals have leukoencephalopathy, which is a change in a type of brain tissue called white matter. White matter consists of nerve fibers covered by a substance (myelin) that insulates and protects the nerves. The leukoencephalopathy is thought to contribute to many of the neurological signs and symptoms in people with Sjögren-Larsson syndrome. Most affected individuals have intellectual disability that varies from mild to profound and is usually apparent by early childhood. People with Sjögren-Larsson syndrome have speech difficulties (dysarthria) and delayed speech. Usually they are able to produce only short sentences with poorly formed words. Rarely, people with this condition have normal intelligence. In addition, approximately 40 percent of people with Sjögren-Larsson syndrome have seizures.Children with this condition often experience delayed development of motor skills (such as crawling and walking) due to abnormal muscle stiffness (spasticity) that is typically in their legs and, less commonly, also in their arms. About one-half of people with Sjögren-Larsson syndrome require wheelchair assistance and many others need some form of support to walk.Affected individuals have tiny crystals in the light-sensitive tissue at the back of the eye (retina) that can be seen during an eye exam. Based on their appearance, these retinal crystals are often called glistening white dots. These white dots are usually apparent by early childhood, and it is unclear if they affect normal vision. People with Sjögren-Larsson syndrome may also have nearsightedness (myopia) or an increased sensitivity to light (photophobia).  https://ghr.nlm.nih.gov/condition/sjogren-larsson-syndrome

Clinical features

Macular degeneration
MedGen UID:
7434
Concept ID:
C0024437
Disease or Syndrome
Degeneration of the macula lutea.
Photophobia
MedGen UID:
43220
Concept ID:
C0085636
Sign or Symptom
Abnormal sensitivity to light. This may occur as a manifestation of EYE DISEASES; MIGRAINE; SUBARACHNOID HEMORRHAGE; MENINGITIS; and other disorders. Photophobia may also occur in association with DEPRESSION and other MENTAL DISORDERS.
Opacification of the corneal epithelium
MedGen UID:
336534
Concept ID:
C1849198
Finding
Lack of transparency of the corneal epithelium.
Short stature
MedGen UID:
87607
Concept ID:
C0349588
Finding
A height below that which is expected according to age and gender norms. Although there is no universally accepted definition of short stature, many refer to \
Seizure Disorders
MedGen UID:
4506
Concept ID:
C0014544
Disease or Syndrome
A brain disorder characterized by episodes of abnormally increased neuronal discharge resulting in transient episodes of sensory or motor neurological dysfunction, or psychic dysfunction. These episodes may or may not be associated with loss of consciousness or convulsions.
Spasticity
MedGen UID:
7753
Concept ID:
C0026838
Sign or Symptom
A form of muscle hypertonia associated with upper MOTOR NEURON DISEASE. Resistance to passive stretch of a spastic muscle results in minimal initial resistance (a "free interval") followed by an incremental increase in muscle tone. Tone increases in proportion to the velocity of stretch. Spasticity is usually accompanied by HYPERREFLEXIA and variable degrees of MUSCLE WEAKNESS. (From Adams et al., Principles of Neurology, 6th ed, p54)
Photophobia
MedGen UID:
43220
Concept ID:
C0085636
Sign or Symptom
Abnormal sensitivity to light. This may occur as a manifestation of EYE DISEASES; MIGRAINE; SUBARACHNOID HEMORRHAGE; MENINGITIS; and other disorders. Photophobia may also occur in association with DEPRESSION and other MENTAL DISORDERS.
CNS demyelination
MedGen UID:
137898
Concept ID:
C0338474
Disease or Syndrome
A loss of myelin from nerve fibers in the central nervous system.
Intellectual disability
MedGen UID:
811461
Concept ID:
C3714756
Mental or Behavioral Dysfunction
Subnormal intellectual functioning which originates during the developmental period. Intellectual disability, previously referred to as mental retardation, has been defined as an IQ score below 70.
Spasticity
MedGen UID:
7753
Concept ID:
C0026838
Sign or Symptom
A form of muscle hypertonia associated with upper MOTOR NEURON DISEASE. Resistance to passive stretch of a spastic muscle results in minimal initial resistance (a "free interval") followed by an incremental increase in muscle tone. Tone increases in proportion to the velocity of stretch. Spasticity is usually accompanied by HYPERREFLEXIA and variable degrees of MUSCLE WEAKNESS. (From Adams et al., Principles of Neurology, 6th ed, p54)
Thoracic kyphosis
MedGen UID:
263148
Concept ID:
C1184919
Finding
Over curvature of the thoracic region, leading to a round back or if sever to a hump.
Thin dental enamel
MedGen UID:
343665
Concept ID:
C1851854
Finding
Developmental hypoplasia of the dental enamel.
Thin dental enamel
MedGen UID:
343665
Concept ID:
C1851854
Finding
Developmental hypoplasia of the dental enamel.
Thin dental enamel
MedGen UID:
343665
Concept ID:
C1851854
Finding
Developmental hypoplasia of the dental enamel.
Ichthyosis
MedGen UID:
7002
Concept ID:
C0020757
Disease or Syndrome
A group of inherited or acquired skin disorders characterized by a dry, thickened, and scaly skin. The skin changes range from mild to severe.
Abnormality of the hair
MedGen UID:
56381
Concept ID:
C0157733
Finding
An abnormality of the hair.
Abnormality of the nail
MedGen UID:
163115
Concept ID:
C0853087
Finding
Abnormality of the nail.

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVSjögren-Larsson syndrome
Follow this link to review classifications for Sjögren-Larsson syndrome in Orphanet.

Recent clinical studies

Etiology

Jack LS, Benson C, Sadiq MA, Rizzo WB, Margalit E
Ophthalmology 2015 Aug;122(8):1730-2. Epub 2015 Mar 14 doi: 10.1016/j.ophtha.2015.02.003. PMID: 25784589Free PMC Article
Sarret C, Rigal M, Vaurs-Barrière C, Dorboz I, Eymard-Pierre E, Combes P, Giraud G, Wanders RJ, Afenjar A, Francannet C, Boespflug-Tanguy O
J Neurol Sci 2012 Jan 15;312(1-2):123-6. Epub 2011 Aug 26 doi: 10.1016/j.jns.2011.08.006. PMID: 21872273
van der Veen RL, Fuijkschot J, Willemsen MA, Cruysberg JR, Berendschot TT, Theelen T
Ophthalmology 2010 May;117(5):966-71. Epub 2010 Feb 16 doi: 10.1016/j.ophtha.2009.10.019. PMID: 20163870
Fuijkschot J, Cruysberg JR, Willemsen MA, Keunen JE, Theelen T
Ophthalmology 2008 May;115(5):870-5. Epub 2007 Sep 12 doi: 10.1016/j.ophtha.2007.05.063. PMID: 17826835
Auada MP, Adam RL, Leite NJ, Puzzi MB, Cintra ML, Rizzo WB, Metze K
Anal Quant Cytol Histol 2006 Aug;28(4):219-27. PMID: 16927642Free PMC Article

Diagnosis

Jack LS, Benson C, Sadiq MA, Rizzo WB, Margalit E
Ophthalmology 2015 Aug;122(8):1730-2. Epub 2015 Mar 14 doi: 10.1016/j.ophtha.2015.02.003. PMID: 25784589Free PMC Article
Burgueño-Montañés C, García-Fernández M, Colunga-Cueva M, García-López A
Arch Soc Esp Oftalmol 2014 Dec;89(12):504-7. Epub 2013 Dec 27 doi: 10.1016/j.oftal.2013.11.010. PMID: 24377952
Takeichi T, Sugiura K, Arai H, Ishii K, Kono M, Akiyama M
Acta Derm Venereol 2013 Sep 4;93(5):579-80. doi: 10.2340/00015555-1526. PMID: 23450279
Bhallil S, Chraibi F, Andalloussi IB, Tahri H
Int Ophthalmol 2012 Oct;32(5):495-8. Epub 2012 Aug 30 doi: 10.1007/s10792-012-9590-9. PMID: 22932746
Fuijkschot J, Theelen T, Seyger MM, van der Graaf M, de Groot IJ, Wevers RA, Wanders RJ, Waterham HR, Willemsen MA
J Inherit Metab Dis 2012 Nov;35(6):955-62. Epub 2012 Jul 26 doi: 10.1007/s10545-012-9518-6. PMID: 22833178

Therapy

Fuijkschot J, Theelen T, Seyger MM, van der Graaf M, de Groot IJ, Wevers RA, Wanders RJ, Waterham HR, Willemsen MA
J Inherit Metab Dis 2012 Nov;35(6):955-62. Epub 2012 Jul 26 doi: 10.1007/s10545-012-9518-6. PMID: 22833178
Benez MD, Fontenelle E, Tozzi BB, Presotto C
An Bras Dermatol 2010 Nov-Dec;85(6):951-3. PMID: 21308331
Gånemo A, Jagell S, Vahlquist A
Acta Derm Venereol 2009;89(1):68-73. doi: 10.2340/00015555-0561. PMID: 19197545
Pirgon O, Aydin K, Atabek ME
J Child Neurol 2006 Dec;21(12):1092-5. doi: 10.1177/7010.2006.00300. PMID: 17156709
Haug S, Braun-Falco M
Gene Ther 2006 Jul;13(13):1021-6. Epub 2006 Mar 9 doi: 10.1038/sj.gt.3302743. PMID: 16525484

Prognosis

Sharma P, Chaudhuri Z, Raina UK, Ghosh B, Sethi S
J Pediatr Ophthalmol Strabismus 2009 Jan-Feb;46(1):42-4. PMID: 19213277
Pirgon O, Aydin K, Atabek ME
J Child Neurol 2006 Dec;21(12):1092-5. doi: 10.1177/7010.2006.00300. PMID: 17156709
Lossos A, Khoury M, Rizzo WB, Gomori JM, Banin E, Zlotogorski A, Jaber S, Abramsky O, Argov Z, Rosenmann H
Arch Neurol 2006 Feb;63(2):278-80. doi: 10.1001/archneur.63.2.278. PMID: 16476818Free PMC Article
Carney G, Wei S, Rizzo WB
Hum Mutat 2004 Aug;24(2):186. doi: 10.1002/humu.9262. PMID: 15241804
Auada MP, Taube MB, Collares EF, Tanaka AM, Cintra ML
Eur J Dermatol 2002 May-Jun;12(3):263-6. PMID: 11978568

Clinical prediction guides

Malheiro AR, da Silva TF, Brites P
J Inherit Metab Dis 2015 Jan;38(1):111-21. Epub 2014 Nov 29 doi: 10.1007/s10545-014-9795-3. PMID: 25432520
Shirato K, Marshman G
Australas J Dermatol 2011 Aug;52(3):231-2. Epub 2011 Mar 1 doi: 10.1111/j.1440-0960.2011.00729.x. PMID: 21834825
van der Veen RL, Fuijkschot J, Willemsen MA, Cruysberg JR, Berendschot TT, Theelen T
Ophthalmology 2010 May;117(5):966-71. Epub 2010 Feb 16 doi: 10.1016/j.ophtha.2009.10.019. PMID: 20163870
Fuijkschot J, Maassen B, Gorter JW, Gerven Mv, Willemsen M
Dev Neurorehabil 2009 Apr;12(2):106-12. doi: 10.1080/17518420902800944. PMID: 19340663
Pirgon O, Aydin K, Atabek ME
J Child Neurol 2006 Dec;21(12):1092-5. doi: 10.1177/7010.2006.00300. PMID: 17156709

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