MCID: STV003
MIFTS: 39

Stuve-Wiedemann Syndrome

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

Aliases & Classifications for Stuve-Wiedemann Syndrome

MalaCards integrated aliases for Stuve-Wiedemann Syndrome:

Name: Stuve-Wiedemann Syndrome 57 53 25 37 29 55 6 73 25 59
Sjs2 57 53 25 59 75
Stws 57 53 25 75
Stuve-Wiedemann/schwartz-Jampel Type 2 Syndrome 57 53 25
Schwartz-Jampel Syndrome Type 2 53 59 75
Stuve-Wiedemann Syndrome/schwartz-Jampel Type 2 Syndrome 57 13
Neonatal Schwartz-Jampel Syndrome 25 59
Stuve-Wiedemann Dysplasia 25 73
Sws 57 25
Neonatal Schwartz-Jampel Syndrome Type 2 53
Schwartz-Jampel Syndrome, Type 2; Sjs2 57
Schwartz-Jampel Syndrome, Neonatal 57
Schwartz-Jampel Syndrome Neonatal 53
Schwartz-Jampel Syndrome, Type 2 57
Schwartz-Jampel Type 2 Syndrome 25
Syndrome, Stuve-Wiedemann ) 40
Stüve-Wiedemann Dysplasia 59
Stueve-Wiedemann Syndrome 75
Stws; Sws 57

Characteristics:

Orphanet epidemiological data:

59
stüve-wiedemann syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide),1-5/10000 (United Arab Emirates); Age of onset: Neonatal; Age of death: infantile;

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
death in infancy due to hyperthermia or apnea
survival past infancy is rare
survivors develop dysautonomia-like symptoms


HPO:

32
stuve-wiedemann syndrome:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Stuve-Wiedemann Syndrome

NIH Rare Diseases : 53 Stuve-Wiedemann syndrome (STWS) is a congenital skeletal (bone) dysplasia characterized by small stature, bowing of the long bones, and other skeletal anomalies. Patients often present with serious complications such as breathing and feeding difficulties and episodes of hyperthermia (elevated body temperature). The condition is transmitted in an autosomal recessive fashion and appears to be caused by mutations in the leukemia inhibitory factor receptor gene (LIFR). STWS is often fatal during the neonatal period due to respiratory distress or hyperthermic episodes. However, some patients do survive to adolescence and beyond. Survivors may develop spinal deformities, spontaneous fractures, bowing of the lower limbs, prominent joints, and dysautonomia symptoms (including temperature instability). Treatment is mainly symptomatic and should include efforts to prevent choking, physical therapy and/or surgery to address bone abnormalities, efforts to prevent vision loss, and treatment for osteopenia or osteoporosis. Caution should be exercised when using anesthesia due to the predisposition to hyperthermia. 

MalaCards based summary : Stuve-Wiedemann Syndrome, also known as sjs2, is related to sturge-weber syndrome and blood group--swann system, and has symptoms including apnea and hoarseness. An important gene associated with Stuve-Wiedemann Syndrome is LIFR (LIF Receptor Alpha). Affiliated tissues include bone, tongue and skin, and related phenotypes are genu valgum and hypothyroidism

OMIM : 57 Stuve-Wiedemann syndrome (STWS) is an autosomal recessive disorder characterized by bowing of the long bones and other skeletal anomalies, episodic hyperthermia, and respiratory and feeding distress usually resulting in early death (Dagoneau et al., 2004). See also 'classic' Schwartz-Jampel syndrome type 1 (SJS1; 255800), a phenotypically similar but genetically distinct disorder caused by mutation in the HSPG2 gene (142461) on chromosome 1p36. (601559)

UniProtKB/Swiss-Prot : 75 Stueve-Wiedemann syndrome: Severe autosomal recessive condition and belongs to the group of the bent-bone dysplasias. SWS is characterized by bowing of the lower limbs, with internal cortical thickening, wide metaphyses with abnormal trabecular pattern, and camptodactyly. Additional features include feeding and swallowing difficulties, as well as respiratory distress and hyperthermic episodes, which cause death in the first months of life. The rare survivors develop progressive scoliosis, spontaneous fractures, bowing of the lower limbs, with prominent joints and dysautonomia symptoms, including temperature instability, absent corneal and patellar reflexes, and smooth tongue.

Related Diseases for Stuve-Wiedemann Syndrome

Graphical network of the top 20 diseases related to Stuve-Wiedemann Syndrome:



Diseases related to Stuve-Wiedemann Syndrome

Symptoms & Phenotypes for Stuve-Wiedemann Syndrome

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Ears:
low-set ears

Head And Neck Face:
frontal bossing
micrognathia
midface hypoplasia
square face
facial myotonia

Neurologic Central Nervous System:
dysautonomia
normal intelligence

Skeletal:
osteoporosis
spontaneous fracture (in older children)

Chest Ribs Sternum Clavicles And Scapulae:
thin ribs
broad coracoid processes
long scapulae

Head And Neck Mouth:
pursed lips
smooth tongue without fungiform papillae (in older children)
ulcers of the tongue due to decreased sensation

Skeletal Hands:
camptodactyly
short fingers
adducted thumbs
flexion contractures of the fingers
ulnar deviation of the fingers

Muscle Soft Tissue:
hypotonia

Head And Neck Eyes:
short palpebral fissures
corneal opacities
absent corneal reflexes (reported in older children)
decreased blink reflexes

Metabolic Features:
hyperthermia, episodic
poor temperature regulation

Skeletal Spine:
scoliosis, progressive

Head And Neck Teeth:
poor dentition (in older children)
mottled enamel
chronic tooth abscesses

Skeletal Pelvis:
broad pubic bones
broad ischial bones
relatively small ilia

Head And Neck Neck:
short neck

Respiratory:
respiratory insufficiency
apnea

Head And Neck Nose:
short nose
wide nasal base

Skin Nails Hair Skin:
thin skin
single palmar crease
blotching pigmentation of the skin (in older children)

Voice:
hoarse voice
hypernasal voice

Respiratory Lung:
pulmonary hypoplasia

Neurologic Peripheral Nervous System:
absent patellar reflexes
decreased pain sensation in extremities

Growth Height:
short stature, postnatal

Abdomen Gastrointestinal:
poor feeding
swallowing difficulties (dysphagia)

Skeletal Limbs:
contractures of the elbows
contractures of the knees
camptomelia
congenital bowing of the long bones (lower extremity greater than upper extremity)
short, thick long bones
more
Skeletal Feet:
flexion contractures of the toes
talipes valgus

Cardiovascular Vascular:
pulmonary artery hypertension
hypertrophy of the pulmonary artery wall


Clinical features from OMIM:

601559

Human phenotypes related to Stuve-Wiedemann Syndrome:

59 32 (show top 50) (show all 88)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 genu valgum 59 32 frequent (33%) Frequent (79-30%) HP:0002857
2 hypothyroidism 59 32 occasional (7.5%) Occasional (29-5%) HP:0000821
3 osteopenia 59 32 frequent (33%) Frequent (79-30%) HP:0000938
4 hyperhidrosis 59 32 hallmark (90%) Very frequent (99-80%) HP:0000975
5 muscular hypotonia 59 32 occasional (7.5%) Occasional (29-5%) HP:0001252
6 dysautonomia 59 32 hallmark (90%) Very frequent (99-80%) HP:0002459
7 scoliosis 59 32 frequent (33%) Frequent (79-30%) HP:0002650
8 skeletal dysplasia 59 32 hallmark (90%) Very frequent (99-80%) HP:0002652
9 abnormality of the dentition 59 32 occasional (7.5%) Occasional (29-5%) HP:0000164
10 short stature 59 32 hallmark (90%) Very frequent (99-80%) HP:0004322
11 feeding difficulties in infancy 59 32 hallmark (90%) Very frequent (99-80%) HP:0008872
12 abnormality of vision 59 32 hallmark (90%) Very frequent (99-80%) HP:0000504
13 osteoporosis 59 32 frequent (33%) Frequent (79-30%) HP:0000939
14 respiratory distress 59 32 frequent (33%) Frequent (79-30%) HP:0002098
15 micromelia 59 32 hallmark (90%) Very frequent (99-80%) HP:0002983
16 hypohidrosis 59 32 hallmark (90%) Very frequent (99-80%) HP:0000966
17 intrauterine growth retardation 59 32 frequent (33%) Frequent (79-30%) HP:0001511
18 apnea 59 32 frequent (33%) Frequent (79-30%) HP:0002104
19 paresthesia 59 32 hallmark (90%) Very frequent (99-80%) HP:0003401
20 impaired pain sensation 59 32 frequent (33%) Frequent (79-30%) HP:0007328
21 talipes equinovarus 59 32 frequent (33%) Frequent (79-30%) HP:0001762
22 asthma 59 32 frequent (33%) Frequent (79-30%) HP:0002099
23 lacrimation abnormality 59 32 frequent (33%) Frequent (79-30%) HP:0000632
24 recurrent fractures 59 32 frequent (33%) Frequent (79-30%) HP:0002757
25 sacral dimple 59 32 occasional (7.5%) Occasional (29-5%) HP:0000960
26 oligohydramnios 59 32 frequent (33%) Frequent (79-30%) HP:0001562
27 camptodactyly of finger 59 32 hallmark (90%) Very frequent (99-80%) HP:0100490
28 trismus 59 32 frequent (33%) Frequent (79-30%) HP:0000211
29 episodic fever 59 32 hallmark (90%) Very frequent (99-80%) HP:0001954
30 knee flexion contracture 59 32 frequent (33%) Frequent (79-30%) HP:0006380
31 decreased corneal reflex 59 32 occasional (7.5%) Occasional (29-5%) HP:0008000
32 ectopic thyroid 59 32 occasional (7.5%) Occasional (29-5%) HP:0100028
33 metaphyseal widening 59 32 hallmark (90%) Very frequent (99-80%) HP:0003016
34 thickened cortex of long bones 59 32 hallmark (90%) Very frequent (99-80%) HP:0000935
35 elbow flexion contracture 59 32 frequent (33%) Frequent (79-30%) HP:0002987
36 absent patellar reflexes 59 32 occasional (7.5%) Occasional (29-5%) HP:0006844
37 smooth tongue 59 32 frequent (33%) Frequent (79-30%) HP:0010298
38 malar flattening 32 HP:0000272
39 low-set ears 32 HP:0000369
40 short neck 32 HP:0000470
41 frontal bossing 32 HP:0002007
42 dysphagia 32 HP:0002015
43 respiratory insufficiency 32 HP:0002093
44 bowing of the long bones 59 Very frequent (99-80%)
45 abnormal cortical bone morphology 59 Very frequent (99-80%)
46 short nose 32 HP:0003196
47 flexion contracture 59 Frequent (79-30%)
48 abnormality of the eye 59 Very frequent (99-80%)
49 myotonia 32 HP:0002486
50 micrognathia 32 HP:0000347

UMLS symptoms related to Stuve-Wiedemann Syndrome:


apnea, hoarseness

Drugs & Therapeutics for Stuve-Wiedemann Syndrome

Search Clinical Trials , NIH Clinical Center for Stuve-Wiedemann Syndrome

Genetic Tests for Stuve-Wiedemann Syndrome

Genetic tests related to Stuve-Wiedemann Syndrome:

# Genetic test Affiliating Genes
1 Stuve-Wiedemann Syndrome 29 LIFR

Anatomical Context for Stuve-Wiedemann Syndrome

MalaCards organs/tissues related to Stuve-Wiedemann Syndrome:

41
Bone, Tongue, Skin, Eye, Thyroid, Cortex

Publications for Stuve-Wiedemann Syndrome

Articles related to Stuve-Wiedemann Syndrome:

(show all 14)
# Title Authors Year
1
Rhabdomyolysis in Stuve-Wiedemann syndrome. ( 29437806 )
2018
2
BILATERAL GIANT RETINAL TEARS IN A PEDIATRIC PATIENT WITH LEUKEMIA INHIBITORY FACTOR RECEPTOR DEFICIENCY (STUVE-WIEDEMANN SYNDROME). ( 25876185 )
2015
3
Stuve-Wiedemann syndrome with a novel mutation. ( 26323980 )
2015
4
Stuve-Wiedemann syndrome: is it underrecognized? ( 24988918 )
2014
5
Long-term follow-up in Stuve-Wiedemann syndrome: a case report with articular involvement. ( 24477277 )
2014
6
Delayed Tetraplegia After Thoracolumbar Scoliosis Surgery in Stuve-Wiedemann Syndrome. ( 27927326 )
2013
7
One in three: congenital bent bone disease and intermittent hyperthermia in three siblings with stuve-wiedemann syndrome. ( 23862038 )
2013
8
Ocular treatment of children with Stuve-Wiedemann syndrome. ( 22316651 )
2012
9
Stuve-Wiedemann syndrome: a skeletal dysplasia characterized by bowed long bones. ( 21337444 )
2011
10
The orthopaedic manifestations and management of children with Stuve-Wiedemann syndrome. ( 20513889 )
2010
11
Stuve Wiedemann syndrome and related syndromes: case report and possible anesthetic complications. ( 19207241 )
2009
12
Long-term follow-up in Stuve-Wiedemann syndrome: a clinical report. ( 18546280 )
2008
13
Long-term survival in Stuve-Wiedemann syndrome: a neuro-myo-skeletal disorder with manifestations of dysautonomia. ( 12687669 )
2003
14
Cardiovascular abnormalities associated with the Stuve-Wiedemann syndrome. ( 12910496 )
2003

Variations for Stuve-Wiedemann Syndrome

UniProtKB/Swiss-Prot genetic disease variations for Stuve-Wiedemann Syndrome:

75
# Symbol AA change Variation ID SNP ID
1 LIFR p.Ser279Pro VAR_025666

ClinVar genetic disease variations for Stuve-Wiedemann Syndrome:

6
(show top 50) (show all 267)
# Gene Variation Type Significance SNP ID Assembly Location
1 LIFR LIFR, 1-BP INS, 653T insertion Pathogenic
2 LIFR NM_002310.5(LIFR): c.1789C> T (p.Arg597Ter) single nucleotide variant Pathogenic rs121912501 GRCh37 Chromosome 5, 38496580: 38496580
3 LIFR NM_002310.5(LIFR): c.1789C> T (p.Arg597Ter) single nucleotide variant Pathogenic rs121912501 GRCh38 Chromosome 5, 38496478: 38496478
4 LIFR LIFR, 1-BP INS, 2011T insertion Pathogenic
5 LIFR LIFR, 4-BP DEL, 167TAAC deletion Pathogenic
6 LIFR NM_002310.5(LIFR): c.2074C> T (p.Arg692Ter) single nucleotide variant Likely pathogenic rs199775294 GRCh37 Chromosome 5, 38490385: 38490385
7 LIFR NM_002310.5(LIFR): c.2074C> T (p.Arg692Ter) single nucleotide variant Likely pathogenic rs199775294 GRCh38 Chromosome 5, 38490283: 38490283
8 LIFR NM_002310.5(LIFR): c.1899A> G (p.Ile633Met) single nucleotide variant Benign/Likely benign rs2303743 GRCh37 Chromosome 5, 38493874: 38493874
9 LIFR NM_002310.5(LIFR): c.1899A> G (p.Ile633Met) single nucleotide variant Benign/Likely benign rs2303743 GRCh38 Chromosome 5, 38493772: 38493772
10 LIFR NM_002310.5(LIFR): c.2302A> G (p.Arg768Gly) single nucleotide variant Uncertain significance rs139848756 GRCh37 Chromosome 5, 38489213: 38489213
11 LIFR NM_002310.5(LIFR): c.2302A> G (p.Arg768Gly) single nucleotide variant Uncertain significance rs139848756 GRCh38 Chromosome 5, 38489111: 38489111
12 LIFR NM_002310.5(LIFR): c.3288C> T (p.Asn1096=) single nucleotide variant Conflicting interpretations of pathogenicity rs3729751 GRCh37 Chromosome 5, 38481703: 38481703
13 LIFR NM_002310.5(LIFR): c.3288C> T (p.Asn1096=) single nucleotide variant Conflicting interpretations of pathogenicity rs3729751 GRCh38 Chromosome 5, 38481601: 38481601
14 LIFR NM_002310.5(LIFR): c.2170C> G (p.Pro724Ala) single nucleotide variant Pathogenic rs863225047 GRCh38 Chromosome 5, 38489243: 38489243
15 LIFR NM_002310.5(LIFR): c.2170C> G (p.Pro724Ala) single nucleotide variant Pathogenic rs863225047 GRCh37 Chromosome 5, 38489345: 38489345
16 LIFR NM_002310.5(LIFR): c.653dupT (p.Glu219Glyfs) duplication Pathogenic rs886042160 GRCh37 Chromosome 5, 38511975: 38511975
17 LIFR NM_002310.5(LIFR): c.653dupT (p.Glu219Glyfs) duplication Pathogenic rs886042160 GRCh38 Chromosome 5, 38511873: 38511873
18 LIFR NM_002310.5(LIFR): c.*6316C> T single nucleotide variant Likely benign rs115572283 GRCh38 Chromosome 5, 38475279: 38475279
19 LIFR NM_002310.5(LIFR): c.*6316C> T single nucleotide variant Likely benign rs115572283 GRCh37 Chromosome 5, 38475381: 38475381
20 LIFR NM_002310.5(LIFR): c.*6100G> A single nucleotide variant Uncertain significance rs188682396 GRCh37 Chromosome 5, 38475597: 38475597
21 LIFR NM_002310.5(LIFR): c.*6100G> A single nucleotide variant Uncertain significance rs188682396 GRCh38 Chromosome 5, 38475495: 38475495
22 LIFR NM_002310.5(LIFR): c.*6041_*6042insTTA insertion Uncertain significance rs542021288 GRCh37 Chromosome 5, 38475655: 38475656
23 LIFR NM_002310.5(LIFR): c.*6041_*6042insTTA insertion Uncertain significance rs542021288 GRCh38 Chromosome 5, 38475553: 38475554
24 LIFR NM_002310.5(LIFR): c.*5072dupA duplication Benign rs34579169 GRCh37 Chromosome 5, 38476625: 38476625
25 LIFR NM_002310.5(LIFR): c.*5072dupA duplication Benign rs34579169 GRCh38 Chromosome 5, 38476523: 38476523
26 LIFR NM_002310.5(LIFR): c.*4926_*4927delTT deletion Uncertain significance rs886060612 GRCh37 Chromosome 5, 38476770: 38476771
27 LIFR NM_002310.5(LIFR): c.*4926_*4927delTT deletion Uncertain significance rs886060612 GRCh38 Chromosome 5, 38476668: 38476669
28 LIFR NM_002310.5(LIFR): c.*4927delT deletion Uncertain significance rs886060611 GRCh37 Chromosome 5, 38476770: 38476770
29 LIFR NM_002310.5(LIFR): c.*4927delT deletion Uncertain significance rs886060611 GRCh38 Chromosome 5, 38476668: 38476668
30 LIFR NM_002310.5(LIFR): c.*4804C> T single nucleotide variant Likely benign rs55917124 GRCh37 Chromosome 5, 38476893: 38476893
31 LIFR NM_002310.5(LIFR): c.*4804C> T single nucleotide variant Likely benign rs55917124 GRCh38 Chromosome 5, 38476791: 38476791
32 LIFR NM_002310.5(LIFR): c.*4438A> G single nucleotide variant Uncertain significance rs886060613 GRCh37 Chromosome 5, 38477259: 38477259
33 LIFR NM_002310.5(LIFR): c.*4438A> G single nucleotide variant Uncertain significance rs886060613 GRCh38 Chromosome 5, 38477157: 38477157
34 LIFR NM_002310.5(LIFR): c.*3850T> G single nucleotide variant Uncertain significance rs886060616 GRCh37 Chromosome 5, 38477847: 38477847
35 LIFR NM_002310.5(LIFR): c.*3850T> G single nucleotide variant Uncertain significance rs886060616 GRCh38 Chromosome 5, 38477745: 38477745
36 LIFR NM_002310.5(LIFR): c.*3302T> C single nucleotide variant Uncertain significance rs868197411 GRCh38 Chromosome 5, 38478293: 38478293
37 LIFR NM_002310.5(LIFR): c.*3302T> C single nucleotide variant Uncertain significance rs868197411 GRCh37 Chromosome 5, 38478395: 38478395
38 LIFR NM_002310.5(LIFR): c.*2986_*2990delTATTT deletion Uncertain significance rs540513218 GRCh38 Chromosome 5, 38478605: 38478609
39 LIFR NM_002310.5(LIFR): c.*2986_*2990delTATTT deletion Uncertain significance rs540513218 GRCh37 Chromosome 5, 38478707: 38478711
40 LIFR NM_002310.5(LIFR): c.*2712C> T single nucleotide variant Uncertain significance rs547688841 GRCh38 Chromosome 5, 38478883: 38478883
41 LIFR NM_002310.5(LIFR): c.*2712C> T single nucleotide variant Uncertain significance rs547688841 GRCh37 Chromosome 5, 38478985: 38478985
42 LIFR NM_002310.5(LIFR): c.*2697A> G single nucleotide variant Uncertain significance rs886060617 GRCh38 Chromosome 5, 38478898: 38478898
43 LIFR NM_002310.5(LIFR): c.*2697A> G single nucleotide variant Uncertain significance rs886060617 GRCh37 Chromosome 5, 38479000: 38479000
44 LIFR NM_002310.5(LIFR): c.*2464C> G single nucleotide variant Uncertain significance rs140583327 GRCh37 Chromosome 5, 38479233: 38479233
45 LIFR NM_002310.5(LIFR): c.*2464C> G single nucleotide variant Uncertain significance rs140583327 GRCh38 Chromosome 5, 38479131: 38479131
46 LIFR NM_002310.5(LIFR): c.*1540A> G single nucleotide variant Uncertain significance rs547319835 GRCh38 Chromosome 5, 38480055: 38480055
47 LIFR NM_002310.5(LIFR): c.*1540A> G single nucleotide variant Uncertain significance rs547319835 GRCh37 Chromosome 5, 38480157: 38480157
48 LIFR NM_002310.5(LIFR): c.*1484A> G single nucleotide variant Benign rs75368466 GRCh37 Chromosome 5, 38480213: 38480213
49 LIFR NM_002310.5(LIFR): c.*1484A> G single nucleotide variant Benign rs75368466 GRCh38 Chromosome 5, 38480111: 38480111
50 LIFR NM_002310.5(LIFR): c.*1468T> G single nucleotide variant Uncertain significance rs886060620 GRCh37 Chromosome 5, 38480229: 38480229

Expression for Stuve-Wiedemann Syndrome

Search GEO for disease gene expression data for Stuve-Wiedemann Syndrome.

Pathways for Stuve-Wiedemann Syndrome

GO Terms for Stuve-Wiedemann Syndrome

Sources for Stuve-Wiedemann Syndrome

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