Sjögren-Larsson syndrome

General Information (adopted from Orphanet):

Synonyms, Signs: ICHTHYOSIS, SPASTIC NEUROLOGIC DISORDER, AND OLIGOPHRENIA
FALDH DEFICIENCY
FATTY ALDEHYDE DEHYDROGENASE DEFICIENCY
FATTY ALCOHOL:NAD+ OXIDOREDUCTASE DEFICIENCY
SLS
Fatty acid alcohol oxidoreductase deficiency
Number of Symptoms 42
OrphanetNr: 816
OMIM Id: 270200
ICD-10: E71.3
UMLs: C0037231
MeSH: D016111
MedDRA: 10048676
Snomed: 111303009

Prevalence, inheritance and age of onset:

Prevalence: 0.4 of 100 000 [Orphanet]
Inheritance: Autosomal recessive
[Orphanet]
Age of onset: Neonatal
Infancy
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Autosomal ichthyosis syndrome with prominent neurologics signs
 -Rare genetic disease
 -Rare skin disease
Disorder of phospholipids, sphingolipids and fatty acids biosynthesis with central nervous system predominant involvement
 -Rare genetic disease
Metabolic disease with cataract
 -Rare eye disease
 -Rare genetic disease
Metabolic disease with pigmentary retinitis
 -Rare eye disease
 -Rare genetic disease
Neurometabolic disease
 -Rare genetic disease
 -Rare neurologic disease
Syndromic ichthyosis associated with ocular features
 -Rare eye disease
 -Rare genetic disease
Unclassified primitive or secondary maculopathy
 -Rare eye disease
 -Rare genetic disease

Symptom Information: Sort by abundance 

1
 (HPO:0000252) Microcephaly Occasional [Orphanet] 832 / 7739
2
 (HPO:0006297) Hypoplasia of dental enamel 64 / 7739
3
 (HPO:0000682) Abnormality of dental enamel Occasional [Orphanet] 102 / 7739
4
 (HPO:0000545) Myopia Frequent [Orphanet] 286 / 7739
5
 (HPO:0100533) Inflammatory abnormality of the eye Frequent [Orphanet] 70 / 7739
6
 (HPO:0000510) Rod-cone dystrophy Frequent [Orphanet] 266 / 7739
7
 (HPO:0000613) Photophobia Frequent [Orphanet] 158 / 7739
8
 (HPO:0008059) Aplasia/Hypoplasia of the macula Frequent [Orphanet] 21 / 7739
9
 (HPO:0007727) Opacification of the corneal epithelium 2 / 7739
10
 (HPO:0000608) Macular degeneration 36 / 7739
11
 (HPO:0000481) Abnormality of the cornea Frequent [Orphanet] 124 / 7739
12
 (HPO:0000488) Retinopathy Frequent [Orphanet] 75 / 7739
13
 (HPO:0001250) Seizures Frequent [Orphanet] 1245 / 7739
14
 (HPO:0001249) Intellectual disability 1089 / 7739
15
 (HPO:0007256) Abnormal pyramidal signs Very frequent [Orphanet] 116 / 7739
16
 (HPO:0001276) Hypertonia Very frequent [Orphanet] 317 / 7739
17
 (HPO:0004374) Hemiplegia/hemiparesis Very frequent [Orphanet] 158 / 7739
18
 (HPO:0001257) Spasticity 251 / 7739
19
 (HPO:0002167) Neurological speech impairment Frequent [Orphanet] 308 / 7739
20
 (HPO:0002650) Scoliosis Occasional [Orphanet] 705 / 7739
21
 (HPO:0001387) Joint stiffness Occasional [Orphanet] 322 / 7739
22
 (HPO:0002652) Skeletal dysplasia Very frequent [Orphanet] 113 / 7739
23
 (HPO:0002808) Kyphosis Very frequent [Orphanet] 289 / 7739
24
 (HPO:0002942) Thoracic kyphosis 14 / 7739
25
 (HPO:0004322) Short stature Occasional [Orphanet] 1232 / 7739
26
 (HPO:0010783) Erythema Very frequent [Orphanet] 138 / 7739
27
 (HPO:0000958) Dry skin Very frequent [Orphanet] 152 / 7739
28
 (HPO:0000962) Hyperkeratosis Very frequent [Orphanet] 216 / 7739
29
 (HPO:0008064) Ichthyosis Very frequent [Orphanet] 108 / 7739
30
 (HPO:0000953) Hyperpigmentation of the skin Frequent [Orphanet] 75 / 7739
31
 (HPO:0001025) Urticaria Occasional [Orphanet] 73 / 7739
32
 (HPO:0001252) Muscular hypotonia Occasional [Orphanet] 990 / 7739
33
 (OMIM) Fatty alcohol:NAD+ oxidoreductase deficiency in leukocytes and fibroblasts 1 / 7739
34
 (OMIM) Normal hair 7 / 7739
35
 (OMIM) Pruritic ichthyosis (onset birth to first several months) 1 / 7739
36
 (OMIM) Palm thickening 1 / 7739
37
 (OMIM) Normal nails 15 / 7739
38
 (HPO:0007305) CNS demyelination 21 / 7739
39
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739
40
 (HPO:0012758) Neurodevelopmental delay Very frequent [Orphanet] 949 / 7739
41
 (OMIM) Glistening white dots in fundus 1 / 7739
42
 (OMIM) Sole thickening 2 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (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).
Clinical Description OMIM The skin changes in Sjogren-Larsson syndrome are similar to those of congenital ichthyosiform erythroderma (242100), although considerable variations in severity have been described (Goldsmith et al., 1971). Link and Roldan (1958) reported cases. Blumel et al. (1958) referred ...
Molecular genetics OMIM By sequence analysis of the FALDH gene from 3 unrelated SLS patients, Rogers et al. (1997) identified distinct mutations (see, e.g., 609523.0001).

Sillen et al. (1998) reported studies of 16 SLS families from Europe and the ...
Population genetics OMIM In Sweden, Jagell et al. (1981) traced 58 patients in 41 families, of whom 35 were alive. Of the 58, 45 were born in a restricted area in the northeast of Sweden. The prevalence of the disorder, the ...