LWS
MCID: LWR019
MIFTS: 29

Lowry-Wood Syndrome (LWS)

Categories: Bone diseases, Fetal diseases, Genetic diseases, Rare diseases

Aliases & Classifications for Lowry-Wood Syndrome

MalaCards integrated aliases for Lowry-Wood Syndrome:

Name: Lowry-Wood Syndrome 57 58 6
Lws 57 20
Epiphyseal Dysplasia, Multiple, with Microcephaly and Retinal Dystrophy 57
Epiphyseal Dysplasia-Microcephaly-Nystagmus Syndrome 58
Epiphyseal Dysplasia, Microcephaly and Nystagmus 20
Dysplasia, Epiphyseal, Microcephaly, Nystagmus 39
Lowry Wood Syndrome 20

Characteristics:

Orphanet epidemiological data:

58
lowry-wood syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Neonatal;

OMIM®:

57 (Updated 05-Mar-2021)
Inheritance:
autosomal recessive


HPO:

31
lowry-wood syndrome:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 58  
Rare bone diseases
Developmental anomalies during embryogenesis


Summaries for Lowry-Wood Syndrome

GARD : 20 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 1824DefinitionA rare disorder characterized by the association of epiphyseal dysplasia, short stature, microcephaly and, in the first reported cases, congenital nystagmus. So far, less than 10 cases have been described in the literature. Variable degrees of intellectual deficit have also been reported. Other occasional features include retinitis pigmentosa and coxa vara. Transmission appears to be autosomal recessive.Visit the Orphanet disease page for more resources.

MalaCards based summary : Lowry-Wood Syndrome, also known as lws, is related to roifman syndrome and microcephaly. An important gene associated with Lowry-Wood Syndrome is RNU4ATAC (RNA, U4atac Small Nuclear (U12-Dependent Splicing)). Related phenotypes are microcephaly and short stature

OMIM® : 57 Lowry-Wood syndrome (LWS) is characterized by multiple epiphyseal dysplasia and microcephaly. Patients exhibit intrauterine growth retardation and short stature, as well as developmental delay and intellectual disability. Retinal degeneration has been reported in some patients (Farach et al., 2018; Shelihan et al., 2018). Microcephalic osteodysplastic primordial dwarfism type I (MOPD1; 210710) and Roifman syndrome (RFMN; 616651), the features of which overlap with those of Lowry-Wood syndrome, are also caused by biallelic mutation in the RNU4ATAC gene. (226960) (Updated 05-Mar-2021)

Related Diseases for Lowry-Wood Syndrome

Diseases related to Lowry-Wood Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 12)
# Related Disease Score Top Affiliating Genes
1 roifman syndrome 29.5 RNU4ATAC CLASP1
2 microcephaly 10.5
3 multiple epiphyseal dysplasia 10.5
4 pathologic nystagmus 10.3
5 isolated growth hormone deficiency, type ia 10.2
6 congenital nystagmus 10.2
7 dwarfism 10.2
8 coxa vara 10.1
9 nail disorder, nonsyndromic congenital, 3 10.1
10 microcephalic osteodysplastic primordial dwarfism, type i 10.1
11 alacrima, achalasia, and mental retardation syndrome 10.1
12 skeletal dysplasias 10.1

Graphical network of the top 20 diseases related to Lowry-Wood Syndrome:



Diseases related to Lowry-Wood Syndrome

Symptoms & Phenotypes for Lowry-Wood Syndrome

Human phenotypes related to Lowry-Wood Syndrome:

58 31 (show all 41)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 microcephaly 58 31 very rare (1%) Very frequent (99-80%) HP:0000252
2 short stature 58 31 very rare (1%) Very frequent (99-80%) HP:0004322
3 epiphyseal dysplasia 58 31 hallmark (90%) Very frequent (99-80%) HP:0002656
4 irregular epiphyses 58 31 hallmark (90%) Very frequent (99-80%) HP:0010582
5 intellectual disability 58 31 frequent (33%) Frequent (79-30%) HP:0001249
6 nystagmus 58 31 very rare (1%) Frequent (79-30%) HP:0000639
7 abnormality of retinal pigmentation 58 31 frequent (33%) Frequent (79-30%) HP:0007703
8 arthralgia 58 31 frequent (33%) Frequent (79-30%) HP:0002829
9 coxa vara 58 31 frequent (33%) Frequent (79-30%) HP:0002812
10 delayed skeletal maturation 58 31 occasional (7.5%) Occasional (29-5%) HP:0002750
11 joint stiffness 58 31 occasional (7.5%) Occasional (29-5%) HP:0001387
12 visual impairment 58 31 occasional (7.5%) Occasional (29-5%) HP:0000505
13 brachydactyly 58 31 very rare (1%) Occasional (29-5%) HP:0001156
14 platyspondyly 58 31 occasional (7.5%) Occasional (29-5%) HP:0000926
15 patellar dislocation 58 31 occasional (7.5%) Occasional (29-5%) HP:0002999
16 aplasia/hypoplasia of the corpus callosum 58 31 occasional (7.5%) Occasional (29-5%) HP:0007370
17 astigmatism 58 31 occasional (7.5%) Occasional (29-5%) HP:0000483
18 dislocated radial head 58 31 occasional (7.5%) Occasional (29-5%) HP:0003083
19 abnormality of nail color 58 31 occasional (7.5%) Occasional (29-5%) HP:0100643
20 global developmental delay 31 very rare (1%) HP:0001263
21 thick vermilion border 31 very rare (1%) HP:0012471
22 intellectual disability, mild 31 very rare (1%) HP:0001256
23 intrauterine growth retardation 31 very rare (1%) HP:0001511
24 elbow flexion contracture 31 very rare (1%) HP:0002987
25 clinodactyly of the 5th finger 31 very rare (1%) HP:0004209
26 hip dislocation 31 very rare (1%) HP:0002827
27 nyctalopia 31 very rare (1%) HP:0000662
28 sloping forehead 31 very rare (1%) HP:0000340
29 prominent nose 31 very rare (1%) HP:0000448
30 squared iliac bones 31 very rare (1%) HP:0003177
31 small for gestational age 31 very rare (1%) HP:0001518
32 pigmentary retinopathy 31 very rare (1%) HP:0000580
33 restrictive ventilatory defect 31 very rare (1%) HP:0002091
34 peripheral visual field loss 31 very rare (1%) HP:0007994
35 multiple epiphyseal dysplasia 31 very rare (1%) HP:0002654
36 limited elbow extension 31 very rare (1%) HP:0001377
37 multiple joint dislocation 31 very rare (1%) HP:0012095
38 abnormality of epiphysis morphology 58 Very frequent (99-80%)
39 elbow dislocation 58 Occasional (29-5%)
40 shallow acetabular fossae 31 HP:0003182
41 small epiphyses 31 HP:0010585

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Mar-2021)
Skeletal Spine:
scoliosis
platyspondyly, mild

Skeletal Skull:
microcephaly
tight cranial sutures
early closure of fontanels

Head And Neck Eyes:
photophobia
retinitis pigmentosa
attenuated retinal vessels
pale optic disc
reduced or absent night vision
more
Growth Other:
intrauterine growth retardation

Skeletal Feet:
brachydactyly

Head And Neck Face:
sloping forehead

Neurologic Behavioral Psychiatric Manifestations:
aggressive behavior

Growth Weight:
low weight

Immunology:
low igg levels
low igm levels

Head And Neck Head:
microcephaly

Growth Height:
short stature

Skeletal Limbs:
genu valgum
patellar dislocation
multiple epiphyseal dysplasia
small epiphyses
knee dislocation
more
Skeletal Hands:
brachydactyly
hypoplastic middle phalanges
fifth-finger clinodactyly

Skeletal Pelvis:
coxa valga
coxa vara
irregular acetabular roof
horizontal acetabular roof
femoral head dislocation, bilateral

Head And Neck Nose:
prominent nose

Neurologic Central Nervous System:
arachnoid cyst
delayed motor milestones
impaired intellectual development
delayed speech

Head And Neck Mouth:
full lips

Clinical features from OMIM®:

226960 (Updated 05-Mar-2021)

Drugs & Therapeutics for Lowry-Wood Syndrome

Search Clinical Trials , NIH Clinical Center for Lowry-Wood Syndrome

Genetic Tests for Lowry-Wood Syndrome

Anatomical Context for Lowry-Wood Syndrome

Publications for Lowry-Wood Syndrome

Articles related to Lowry-Wood Syndrome:

(show all 15)
# Title Authors PMID Year
1
Lowry-Wood syndrome: further evidence of association with RNU4ATAC, and correlation between genotype and phenotype. 6 57 61
30368667 2018
2
The expanding phenotype of RNU4ATAC pathogenic variants to Lowry Wood syndrome. 61 6 57
29265708 2018
3
Multiple joint dislocations: an additional skeletal finding in Lowry-Wood syndrome? 61 6 57
19288552 2009
4
A new patient with Lowry-Wood syndrome with mild phenotype. 61 57 6
12605445 2003
5
Epiphyseal dysplasia with coxa vara, microcephaly, and normal intelligence in sibs: expanded spectrum of Lowry-Wood syndrome? 61 57
2801767 1989
6
Syndrome of short stature, microcephaly, mental retardation, and multiple epiphyseal dysplasia--Lowry-Wood syndrome. 61 57
3706411 1986
7
Compound heterozygous mutations in the noncoding RNU4ATAC cause Roifman Syndrome by disrupting minor intron splicing. 6
26522830 2015
8
A novel mutation in RNU4ATAC in a patient with microcephalic osteodysplastic primordial dwarfism type I. 6
25735804 2015
9
Is Roifman syndrome an X-linked ciliopathy with humoral immunodeficiency? Evidence from 2 new cases. 6
21977988 2011
10
Mutations in U4atac snRNA, a component of the minor spliceosome, in the developmental disorder MOPD I. 6
21474760 2011
11
Association of TALS developmental disorder with defect in minor splicing component U4atac snRNA. 6
21474761 2011
12
Epiphyseal dysplasia, microcephaly, nystagmus, and retinitis pigmentosa. 57
2801768 1989
13
Syndrome of epiphyseal dysplasia, short stature, microcephaly and nystagmus. 57
1183069 1975
14
Loss of U11 small nuclear RNA in the developing mouse limb results in micromelia. 61
32665241 2020
15
Multiple epiphyseal dysplasia with small head, congenital nystagmus, hypoplasia of corpus callosum, and leukonychia totalis: a variant of Lowry-Wood syndrome? 61
7747786 1995

Variations for Lowry-Wood Syndrome

ClinVar genetic disease variations for Lowry-Wood Syndrome:

6
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 RNU4ATAC NR_023343.1(RNU4ATAC):n.51G>A SNV Pathogenic 30178 rs188343279 2:122288506-122288506 2:121530930-121530930
2 RNU4ATAC NM_015282.3(CLASP1):c.196-665C>T SNV Pathogenic 30181 rs763500364 2:122288566-122288566 2:121530990-121530990
3 RNU4ATAC NM_015282.3(CLASP1):c.196-559T>G SNV Pathogenic 932367 2:122288460-122288460 2:121530884-121530884
4 RNU4ATAC NR_023343.1(RNU4ATAC):n.46G>A SNV Pathogenic 636959 rs1032667950 2:122288501-122288501 2:121530925-121530925
5 RNU4ATAC NM_015282.3(CLASP1):c.196-674A>C SNV Pathogenic 977779 2:122288575-122288575 2:121530999-121530999
6 RNU4ATAC NM_015282.3(CLASP1):c.196-668C>G SNV Pathogenic 977780 2:122288569-122288569 2:121530993-121530993
7 RNU4ATAC NM_015282.3(CLASP1):c.196-562G>T SNV Likely pathogenic 692040 rs370715569 2:122288463-122288463 2:121530887-121530887
8 RNU4ATAC NM_015282.3(CLASP1):c.196-607G>A SNV Likely pathogenic 692041 rs180755563 2:122288508-122288508 2:121530932-121530932

Expression for Lowry-Wood Syndrome

Search GEO for disease gene expression data for Lowry-Wood Syndrome.

Pathways for Lowry-Wood Syndrome

GO Terms for Lowry-Wood Syndrome

Sources for Lowry-Wood Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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