WNS
MCID: WSM003
MIFTS: 26

Weismann-Netter Syndrome (WNS)

Categories: Bone diseases, Fetal diseases, Rare diseases

Aliases & Classifications for Weismann-Netter Syndrome

MalaCards integrated aliases for Weismann-Netter Syndrome:

Name: Weismann-Netter Syndrome 56 58
Wns 56 52 58
Toxopachyosteose Diaphysaire Tibio-Peroniere 56 52
Weismann Netter Syndrome 52 71
Bowing of Legs, Anterior, with Dwarfism 56
Bowing of Legs, Anterior with Dwarfism 52
Anterior Bowing of Legs with Dwarfism 58
Weismann-Netter-Stuhl Syndrome 58

Characteristics:

OMIM:

56
Inheritance:
autosomal dominant

Miscellaneous:
condition is experienced by patients as harmless and is often discovered incidentally


HPO:

31
weismann-netter syndrome:
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 58  
Rare bone diseases
Developmental anomalies during embryogenesis


External Ids:

OMIM 56 112350
MESH via Orphanet 44 C537082
ICD10 via Orphanet 33 Q77.8
UMLS via Orphanet 72 C1862172
Orphanet 58 ORPHA3344
MedGen 41 C1862172
UMLS 71 C1862172

Summaries for Weismann-Netter Syndrome

NIH Rare Diseases : 52 The following summary is from Orphanet , a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 3344 Definition Weismann-Netter syndrome is a rare, genetic, primary, bent bone dysplasia characterized by anterior diaphyseal bowing of the tibia and fibula, broadening of the fibula, posterior cortical thickening of both bones and short stature . Additional skeletal abnormalities include scoliosis with marked lumbar lordosis , horizontal sacrum and square iliac wings and/or, less frequently, vertebral malformations, abnormal shape of the clavicles and ribs, calvarial hyperostosis and delayed eruption of permanent teeth. Delayed ambulation is also frequently associated. Visit the Orphanet disease page for more resources.

MalaCards based summary : Weismann-Netter Syndrome, also known as wns, is related to scoliosis and osteomalacia. Affiliated tissues include bone and thyroid, and related phenotypes are abnormal cortical bone morphology and severe short stature

OMIM : 56 The diagnostic hallmarks of Weismann-Netter syndrome (WNS) are anterior bowing of the diaphyses of the tibia and fibula, broadening or 'tibialization' of the fibula, posterior cortical thickening of both bones, and short stature. The diaphyses of other long bones may be similarly affected, but usually to a milder degree. Some WNS patients have also displayed mental retardation (summary by Peippo et al., 2009). (112350)

Wikipedia : 74 Weismann-Netter-Stuhl syndrome, also known as Weismann-Netter syndrome or tibioperoneal diaphyseal... more...

Related Diseases for Weismann-Netter Syndrome

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

(show all 25)
# Related Disease Score Top Affiliating Genes
1 scoliosis 10.8
2 osteomalacia 10.7
3 goiter 10.7
4 mammary paget's disease 10.7
5 congenital syphilis 10.7
6 rickets 10.6
7 syphilis 10.6
8 west nile virus 10.6
9 encephalitis 10.6
10 japanese encephalitis 10.6
11 branchiootic syndrome 1 10.5
12 dwarfism 10.5
13 skeletal dysplasias 10.5
14 yellow fever 10.3
15 hutterite cerebroosteonephrodysplasia syndrome 10.1
16 myd88 deficiency 10.1
17 dengue virus 10.1
18 mulchandani-bhoj-conlin syndrome 10.1
19 helix syndrome 10.1
20 murray valley encephalitis 10.1
21 st. louis encephalitis 10.1
22 hemolytic anemia 10.1
23 b-cell lymphoma 10.1
24 nervous system disease 10.1
25 west nile virus infection 10.1

Graphical network of the top 20 diseases related to Weismann-Netter Syndrome:



Diseases related to Weismann-Netter Syndrome

Symptoms & Phenotypes for Weismann-Netter Syndrome

Human phenotypes related to Weismann-Netter Syndrome:

58 31 (show all 24)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 abnormal cortical bone morphology 58 31 hallmark (90%) Very frequent (99-80%) HP:0003103
2 severe short stature 58 31 hallmark (90%) Very frequent (99-80%) HP:0003510
3 tibial bowing 58 31 hallmark (90%) Very frequent (99-80%) HP:0002982
4 fibular bowing 58 31 hallmark (90%) Very frequent (99-80%) HP:0010502
5 intellectual disability 58 31 frequent (33%) Frequent (79-30%) HP:0001249
6 scoliosis 58 31 frequent (33%) Frequent (79-30%) HP:0002650
7 kyphosis 58 31 frequent (33%) Frequent (79-30%) HP:0002808
8 abnormal form of the vertebral bodies 58 31 frequent (33%) Frequent (79-30%) HP:0003312
9 squared iliac bones 58 31 frequent (33%) Frequent (79-30%) HP:0003177
10 femoral bowing 58 31 frequent (33%) Frequent (79-30%) HP:0002980
11 abnormality of the ulna 58 31 occasional (7.5%) Occasional (29-5%) HP:0002997
12 anemia 58 31 occasional (7.5%) Occasional (29-5%) HP:0001903
13 abnormality of the thyroid gland 58 31 occasional (7.5%) Occasional (29-5%) HP:0000820
14 aplasia/hypoplasia of the radius 58 31 occasional (7.5%) Occasional (29-5%) HP:0006501
15 abnormality of the humerus 58 31 occasional (7.5%) Occasional (29-5%) HP:0003063
16 calvarial hyperostosis 31 occasional (7.5%) HP:0004490
17 delayed eruption of permanent teeth 31 occasional (7.5%) HP:0000696
18 small sella turcica 31 occasional (7.5%) HP:0010538
19 bowing of the long bones 58 31 Very frequent (99-80%) HP:0006487
20 abnormality of the hip bone 58 Frequent (79-30%)
21 abnormality of femur morphology 58 Frequent (79-30%)
22 abnormality of tibia morphology 58 Very frequent (99-80%)
23 abnormality of fibula morphology 58 Very frequent (99-80%)
24 horizontal sacrum 31 HP:0003440

Symptoms via clinical synopsis from OMIM:

56
Skeletal Spine:
scoliosis
kyphosis
horizontal sacrum
lumbar lordosis, pronounced
embedded vertebral body l5
more
Head And Neck Teeth:
delayed eruption of permanent teeth (rare)

Endocrine Features:
enlarged thyroid gland (rare)

Skeletal Skull:
calvarial hyperostosis (in some patients)
small sella turcica (in some patients)
calcified falx cerebri (in some patients)

Skeletal Limbs:
anterior bowing of diaphyses of tibiae
anterior bowing of diaphyses of fibulae
broadening or 'tibialization' of fibulae
posterior cortical thickening of tibiae
posterior cortical thickening of fibulae
more
Growth Height:
short stature

Head And Neck Neck:
enlarged thyroid gland (rare)

Chest Ribs Sternum Clavicles And Scapulae:
abnormally shaped ribs or clavicles (rare)

Skeletal Pelvis:
square iliac wings

Neurologic Central Nervous System:
mental retardation, variable degree (in some patients)

Clinical features from OMIM:

112350

Drugs & Therapeutics for Weismann-Netter Syndrome

Search Clinical Trials , NIH Clinical Center for Weismann-Netter Syndrome

Genetic Tests for Weismann-Netter Syndrome

Anatomical Context for Weismann-Netter Syndrome

MalaCards organs/tissues related to Weismann-Netter Syndrome:

40
Bone, Thyroid

Publications for Weismann-Netter Syndrome

Articles related to Weismann-Netter Syndrome:

(show all 15)
# Title Authors PMID Year
1
Weismann-Netter syndrome and mental retardation: a new patient and review of the literature. 61 56
19839038 2009
2
Do not overlook Weismann-Netter syndrome in differential diagnosis of skeletal dysplasias. 61 56
15083704 2004
3
The Weismann-Netter syndrome: a cause of bowed legs in childhood. 61 56
1861935 1991
4
The Weismann-Netter syndrome. 56 61
3377000 1988
5
Toxopachyostéose diaphysaire tibiopéronière (Weismann-Netter Syndrome). 61 56
5431505 1970
6
The Weismann-Netter, Stuhl syndrome: a rare pediatric skeletal dysplasia. 56
7761160 1995
7
Weismann-Netter-Stuhl syndrome: toxopachyostéose diaphysaire tibio-péronière. 56
6779527 1980
8
Toxopachyostéose diaphysaire tibiopéroniére. 56
4712749 1973
9
[Congenital bowing of long bones--occurrence in two sisters]. 56
5157649 1971
10
[Weissmann-Netter malformation of the leg (tibio-fibular diaphysial toxo-pachy-osteosis) in 2 true twins]. 56
13754306 1961
11
[Apropos of nonrachitic curvatures of the lower extremities. 2. New cases of tibio-personeal diaphysial toxopachyosteosis observed in adults]. 56
13804317 1960
12
[Congenital osteopathy eventually familial defined especially by antero-posterior incurvation and thickening of both bones of the leg: diaphyseal tibio-peroneal toxopachyostosis]. 56
13237064 1954
13
Severe lateral tibial bowing with short stature in two siblings--a provisionally novel syndrome. 61
22927185 2012
14
[Toxopachyosteose diaphisaire tibioperoniere (Weismann-Netter syndrome) (author's transl)]. 61
533047 1979
15
Weismann-Netter syndrome (toxopachyostéose diaphysaire tibio-péronière). 61
1021130 1976

Variations for Weismann-Netter Syndrome

Expression for Weismann-Netter Syndrome

Search GEO for disease gene expression data for Weismann-Netter Syndrome.

Pathways for Weismann-Netter Syndrome

GO Terms for Weismann-Netter Syndrome

Sources for Weismann-Netter Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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