LWS
MCID: LWR019
MIFTS: 33

Lowry-Wood Syndrome (LWS)

Categories: Bone diseases, Eye diseases, Fetal diseases, Genetic diseases, Mental diseases, Rare diseases
Data Licensing
For inquiries, contact:

Aliases & Classifications for Lowry-Wood Syndrome

MalaCards integrated aliases for Lowry-Wood Syndrome:

Name: Lowry-Wood Syndrome 57 58 28 5 75
Lws 57 19
Epiphyseal Dysplasia, Multiple, with Microcephaly and Retinal Dystrophy 57
Epiphyseal Dysplasia-Microcephaly-Nystagmus Syndrome 58
Epiphyseal Dysplasia, Microcephaly and Nystagmus 19
Dysplasia, Epiphyseal, Microcephaly, Nystagmus 38
Lowry Wood Syndrome 19

Characteristics:


Inheritance:

Autosomal recessive 58 57

Prevelance:

<1/1000000 (Worldwide) 58

Age Of Onset:

Neonatal 58

Classifications:

Orphanet: 58  
Rare bone diseases
Developmental anomalies during embryogenesis


Summaries for Lowry-Wood Syndrome

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 08-Dec-2022)

MalaCards based summary: Lowry-Wood Syndrome, also known as lws, is related to roifman syndrome and microcephalic osteodysplastic primordial dwarfism, type i. An important gene associated with Lowry-Wood Syndrome is RNU4ATAC (RNA, U4atac Small Nuclear). Affiliated tissues include bone, and related phenotypes are microcephaly and short stature

GARD: 19 A 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.

Orphanet: 58 A 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.

Wikipedia: 75 Lowry-Wood syndrome, also simply known as LWS, is a very rare genetic disorder which is characterized by... more...

Related Diseases for Lowry-Wood Syndrome

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

Symptoms via clinical synopsis from OMIM®:

57 (Updated 08-Dec-2022)
Skeletal Spine:
scoliosis
platyspondyly, mild

Skeletal Skull:
microcephaly
tight cranial sutures
early closure of fontanels

Head And Neck Eyes:
photophobia
attenuated retinal vessels
pale optic disc
retinitis pigmentosa
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
impaired intellectual development
delayed motor milestones
delayed speech

Head And Neck Mouth:
full lips

Clinical features from OMIM®:

226960 (Updated 08-Dec-2022)

Drugs & Therapeutics for Lowry-Wood Syndrome

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Primordial Registry at Nemours/Alfred I. duPont Hospital for Children Recruiting NCT04569149

Search NIH Clinical Center for Lowry-Wood Syndrome

Genetic Tests for Lowry-Wood Syndrome

Genetic tests related to Lowry-Wood Syndrome:

# Genetic test Affiliating Genes
1 Lowry-Wood Syndrome 28 RNU4ATAC

Anatomical Context for Lowry-Wood Syndrome

Organs/tissues related to Lowry-Wood Syndrome:

MalaCards : Bone

Publications for Lowry-Wood Syndrome

Articles related to Lowry-Wood Syndrome:

(show all 16)
# Title Authors PMID Year
1
Lowry-Wood syndrome: further evidence of association with RNU4ATAC, and correlation between genotype and phenotype. 62 57 5
30368667 2018
2
The expanding phenotype of RNU4ATAC pathogenic variants to Lowry Wood syndrome. 62 57 5
29265708 2018
3
Multiple joint dislocations: an additional skeletal finding in Lowry-Wood syndrome? 62 57 5
19288552 2009
4
A new patient with Lowry-Wood syndrome with mild phenotype. 62 57 5
12605445 2003
5
Epiphyseal dysplasia with coxa vara, microcephaly, and normal intelligence in sibs: expanded spectrum of Lowry-Wood syndrome? 62 57
2801767 1989
6
Epiphyseal dysplasia, microcephaly, nystagmus, and retinitis pigmentosa. 62 57
2801768 1989
7
Syndrome of short stature, microcephaly, mental retardation, and multiple epiphyseal dysplasia--Lowry-Wood syndrome. 62 57
3706411 1986
8
Compound heterozygous mutations in the noncoding RNU4ATAC cause Roifman Syndrome by disrupting minor intron splicing. 5
26522830 2015
9
A novel mutation in RNU4ATAC in a patient with microcephalic osteodysplastic primordial dwarfism type I. 5
25735804 2015
10
Is Roifman syndrome an X-linked ciliopathy with humoral immunodeficiency? Evidence from 2 new cases. 5
21977988 2011
11
Association of TALS developmental disorder with defect in minor splicing component U4atac snRNA. 5
21474761 2011
12
Mutations in U4atac snRNA, a component of the minor spliceosome, in the developmental disorder MOPD I. 5
21474760 2011
13
Syndrome of epiphyseal dysplasia, short stature, microcephaly and nystagmus. 57
1183069 1975
14
Disruption of exon-bridging interactions between the minor and major spliceosomes results in alternative splicing around minor introns. 62
33660780 2021
15
Loss of U11 small nuclear RNA in the developing mouse limb results in micromelia. 62
32665241 2020
16
Multiple epiphyseal dysplasia with small head, congenital nystagmus, hypoplasia of corpus callosum, and leukonychia totalis: a variant of Lowry-Wood syndrome? 62
7747786 1995

Variations for Lowry-Wood Syndrome

ClinVar genetic disease variations for Lowry-Wood Syndrome:

5
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 RNU4ATAC, CLASP1 NM_001395891.1(CLASP1):c.196-600C>T SNV Pathogenic
636959 rs1032667950 GRCh37: 2:122288501-122288501
GRCh38: 2:121530925-121530925
2 RNU4ATAC, CLASP1 NM_001395891.1(CLASP1):c.196-674A>C SNV Pathogenic
977779 rs1281131043 GRCh37: 2:122288575-122288575
GRCh38: 2:121530999-121530999
3 RNU4ATAC, CLASP1 NM_001395891.1(CLASP1):c.196-668C>G SNV Pathogenic
977780 rs558667045 GRCh37: 2:122288569-122288569
GRCh38: 2:121530993-121530993
4 RNU4ATAC, CLASP1 NM_001395891.1(CLASP1):c.196-665C>T SNV Pathogenic
30181 rs763500364 GRCh37: 2:122288566-122288566
GRCh38: 2:121530990-121530990
5 RNU4ATAC, CLASP1 NM_001395891.1(CLASP1):c.196-605C>T SNV Pathogenic
30178 rs188343279 GRCh37: 2:122288506-122288506
GRCh38: 2:121530930-121530930
6 RNU4ATAC, CLASP1 NM_001395891.1(CLASP1):c.196-559T>G SNV Pathogenic
932367 rs533487249 GRCh37: 2:122288460-122288460
GRCh38: 2:121530884-121530884
7 RNU4ATAC, CLASP1 NM_001395891.1(CLASP1):c.196-607G>A SNV Likely Pathogenic
692041 rs180755563 GRCh37: 2:122288508-122288508
GRCh38: 2:121530932-121530932
8 RNU4ATAC, CLASP1 NM_001395891.1(CLASP1):c.196-562G>T SNV Likely Pathogenic
692040 rs370715569 GRCh37: 2:122288463-122288463
GRCh38: 2:121530887-121530887

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

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
Content
Loading form....