MCID: STV004
MIFTS: 35

Stuve-Wiedemann Syndrome/schwartz-Jampel Type 2 Syndrome

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

Aliases & Classifications for Stuve-Wiedemann Syndrome/schwartz-Jampel Type 2 Syndrome

MalaCards integrated aliases for Stuve-Wiedemann Syndrome/schwartz-Jampel Type 2 Syndrome:

Name: Stuve-Wiedemann Syndrome/schwartz-Jampel Type 2 Syndrome 54 13
Stuve-Wiedemann Syndrome 50 24 25 29 52 69
Sjs2 50 25 56 71
Schwartz-Jampel Syndrome Type 2 50 56 71
Stws 50 25 71
Stuve-Wiedemann/schwartz-Jampel Type 2 Syndrome 50 25
Neonatal Schwartz-Jampel Syndrome 25 56
Stuve-Wiedemann Dysplasia 25 69
Stüve-Wiedemann Syndrome 25 56
Stüve-Wiedemann/schwartz-Jampel Type 2 Syndrome 56
Neonatal Schwartz-Jampel Syndrome Type 2 50
Schwartz-Jampel Syndrome, Neonatal 24
Schwartz-Jampel Syndrome Neonatal 50
Schwartz-Jampel Syndrome, Type 2 24
Schwartz-Jampel Type 2 Syndrome 25
Stüve-Wiedemann Dysplasia 56
Stueve-Wiedemann Syndrome 71
Sws 25

Characteristics:

Orphanet epidemiological data:

56
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:

54
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/schwartz-jampel type 2 syndrome:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Stuve-Wiedemann Syndrome/schwartz-Jampel Type 2 Syndrome

NIH Rare Diseases : 50 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.  last updated: 5/4/2016

MalaCards based summary : Stuve-Wiedemann Syndrome/schwartz-Jampel Type 2 Syndrome, also known as stuve-wiedemann syndrome, is related to sturge-weber syndrome, somatic, mosaic and cold-induced sweating syndrome, and has symptoms including short stature, scoliosis and intrauterine growth retardation. An important gene associated with Stuve-Wiedemann Syndrome/schwartz-Jampel Type 2 Syndrome is LIFR (LIF Receptor Alpha). Affiliated tissues include bone, tongue and skin.

UniProtKB/Swiss-Prot : 71 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.

OMIM : 54
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)

Related Diseases for Stuve-Wiedemann Syndrome/schwartz-Jampel Type 2 Syndrome

Graphical network of the top 20 diseases related to Stuve-Wiedemann Syndrome/schwartz-Jampel Type 2 Syndrome:



Diseases related to Stuve-Wiedemann Syndrome/schwartz-Jampel Type 2 Syndrome

Symptoms & Phenotypes for Stuve-Wiedemann Syndrome/schwartz-Jampel Type 2 Syndrome

Symptoms via clinical synopsis from OMIM:

54

Muscle Soft Tissue:
hypotonia

Abdomen- Gastroin testinal:
poor feeding
swallowing difficulties (dysphagia)

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

Respiratory- Lung:
pulmonary hypoplasia

Skeletal:
osteoporosis
spontaneous fracture (in older children)

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

Head And Neck- Neck:
short neck

Skeletal- Feet:
talipes valgus
flexion contractures of the toes

Metabolic Features:
hyperthermia, episodic
poor temperature regulation

Growth- Height:
short stature, postnatal

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

Skeletal- Spine:
scoliosis, progressive

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

Head And Neck- Ears:
low-set ears

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

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

Head And Neck- Nose:
short nose
wide nasal base

Respiratory:
apnea
respiratory insufficiency

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

Neurologic- Central Nervous System:
normal intelligence
dysautonomia

Skeletal- Limbs:
contractures of the elbows
camptomelia
congenital bowing of the long bones (lower extremity greater than upper extremity)
short, thick long bones
bowed, short femora
more
Voice:
hoarse voice
hypernasal voice

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

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

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


Clinical features from OMIM:

601559

Human phenotypes related to Stuve-Wiedemann Syndrome/schwartz-Jampel Type 2 Syndrome:

56 32 (show top 50) (show all 87)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 short stature 56 32 hallmark (90%) Very frequent (99-80%) HP:0004322
2 scoliosis 56 32 frequent (33%) Frequent (79-30%) HP:0002650
3 intrauterine growth retardation 56 32 frequent (33%) Frequent (79-30%) HP:0001511
4 osteoporosis 56 32 frequent (33%) Frequent (79-30%) HP:0000939
5 respiratory distress 56 32 frequent (33%) Frequent (79-30%) HP:0002098
6 apnea 56 32 frequent (33%) Frequent (79-30%) HP:0002104
7 genu valgum 56 32 frequent (33%) Frequent (79-30%) HP:0002857
8 talipes equinovarus 56 32 frequent (33%) Frequent (79-30%) HP:0001762
9 osteopenia 56 32 frequent (33%) Frequent (79-30%) HP:0000938
10 recurrent fractures 56 32 frequent (33%) Frequent (79-30%) HP:0002757
11 elbow flexion contracture 56 32 frequent (33%) Frequent (79-30%) HP:0002987
12 knee flexion contracture 56 32 frequent (33%) Frequent (79-30%) HP:0006380
13 trismus 56 32 frequent (33%) Frequent (79-30%) HP:0000211
14 oligohydramnios 56 32 frequent (33%) Frequent (79-30%) HP:0001562
15 micromelia 56 32 hallmark (90%) Very frequent (99-80%) HP:0002983
16 hypothyroidism 56 32 occasional (7.5%) Occasional (29-5%) HP:0000821
17 muscular hypotonia 56 32 occasional (7.5%) Occasional (29-5%) HP:0001252
18 feeding difficulties in infancy 56 32 hallmark (90%) Very frequent (99-80%) HP:0008872
19 asthma 56 32 frequent (33%) Frequent (79-30%) HP:0002099
20 hyperhidrosis 56 32 hallmark (90%) Very frequent (99-80%) HP:0000975
21 hypohidrosis 56 32 hallmark (90%) Very frequent (99-80%) HP:0000966
22 ectopic thyroid 56 32 occasional (7.5%) Occasional (29-5%) HP:0100028
23 metaphyseal widening 56 32 hallmark (90%) Very frequent (99-80%) HP:0003016
24 smooth tongue 56 32 frequent (33%) Frequent (79-30%) HP:0010298
25 skeletal dysplasia 56 32 hallmark (90%) Very frequent (99-80%) HP:0002652
26 sacral dimple 56 32 occasional (7.5%) Occasional (29-5%) HP:0000960
27 dysautonomia 56 32 hallmark (90%) Very frequent (99-80%) HP:0002459
28 absent patellar reflexes 56 32 occasional (7.5%) Occasional (29-5%) HP:0006844
29 decreased corneal reflex 56 32 occasional (7.5%) Occasional (29-5%) HP:0008000
30 paresthesia 56 32 hallmark (90%) Very frequent (99-80%) HP:0003401
31 thickened cortex of long bones 56 32 hallmark (90%) Very frequent (99-80%) HP:0000935
32 episodic fever 56 32 hallmark (90%) Very frequent (99-80%) HP:0001954
33 abnormality of vision 56 32 hallmark (90%) Very frequent (99-80%) HP:0000504
34 impaired pain sensation 56 32 frequent (33%) Frequent (79-30%) HP:0007328
35 lacrimation abnormality 56 32 frequent (33%) Frequent (79-30%) HP:0000632
36 camptodactyly of finger 56 32 hallmark (90%) Very frequent (99-80%) HP:0100490
37 dysphagia 32 HP:0002015
38 low-set ears 32 HP:0000369
39 micrognathia 32 HP:0000347
40 thin ribs 32 HP:0000883
41 femoral bowing 32 HP:0002980
42 tibial bowing 32 HP:0002982
43 pulmonary hypoplasia 32 HP:0002089
44 frontal bossing 32 HP:0002007
45 short nose 32 HP:0003196
46 thin skin 32 HP:0000963
47 short neck 32 HP:0000470
48 midface retrusion 32 HP:0011800
49 respiratory insufficiency 32 HP:0002093
50 feeding difficulties 32 HP:0011968

UMLS symptoms related to Stuve-Wiedemann Syndrome/schwartz-Jampel Type 2 Syndrome:


hoarseness

Drugs & Therapeutics for Stuve-Wiedemann Syndrome/schwartz-Jampel Type 2 Syndrome

Search Clinical Trials , NIH Clinical Center for Stuve-Wiedemann Syndrome/schwartz-Jampel Type 2 Syndrome

Genetic Tests for Stuve-Wiedemann Syndrome/schwartz-Jampel Type 2 Syndrome

Genetic tests related to Stuve-Wiedemann Syndrome/schwartz-Jampel Type 2 Syndrome:

id Genetic test Affiliating Genes
1 Stuve-Wiedemann Syndrome 29 24 LIFR

Anatomical Context for Stuve-Wiedemann Syndrome/schwartz-Jampel Type 2 Syndrome

MalaCards organs/tissues related to Stuve-Wiedemann Syndrome/schwartz-Jampel Type 2 Syndrome:

39
Bone, Tongue, Skin, Thyroid, Eye, Cortex

Publications for Stuve-Wiedemann Syndrome/schwartz-Jampel Type 2 Syndrome

Variations for Stuve-Wiedemann Syndrome/schwartz-Jampel Type 2 Syndrome

UniProtKB/Swiss-Prot genetic disease variations for Stuve-Wiedemann Syndrome/schwartz-Jampel Type 2 Syndrome:

71
id Symbol AA change Variation ID SNP ID
1 LIFR p.Ser279Pro VAR_025666

ClinVar genetic disease variations for Stuve-Wiedemann Syndrome/schwartz-Jampel Type 2 Syndrome:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 LIFR NM_002310.5(LIFR): c.1789C> T (p.Arg597Ter) single nucleotide variant Pathogenic rs121912501 GRCh37 Chromosome 5, 38496580: 38496580
2 LIFR LIFR, 4-BP DEL, 167TAAC deletion Pathogenic
3 LIFR LIFR, 1-BP INS, 2011T insertion Pathogenic
4 LIFR LIFR, 1-BP INS, 653T insertion Pathogenic
5 LIFR NM_002310.5(LIFR): c.2074C> T (p.Arg692Ter) single nucleotide variant Pathogenic/Likely pathogenic rs199775294 GRCh37 Chromosome 5, 38490385: 38490385
6 LIFR NM_002310.5(LIFR): c.2170C> G (p.Pro724Ala) single nucleotide variant Pathogenic rs863225047 GRCh38 Chromosome 5, 38489243: 38489243
7 LIFR NM_002310.5(LIFR): c.653dupT (p.Glu219Glyfs) duplication Pathogenic rs886042160 GRCh37 Chromosome 5, 38511975: 38511975

Expression for Stuve-Wiedemann Syndrome/schwartz-Jampel Type 2 Syndrome

Search GEO for disease gene expression data for Stuve-Wiedemann Syndrome/schwartz-Jampel Type 2 Syndrome.

Pathways for Stuve-Wiedemann Syndrome/schwartz-Jampel Type 2 Syndrome

GO Terms for Stuve-Wiedemann Syndrome/schwartz-Jampel Type 2 Syndrome

Sources for Stuve-Wiedemann Syndrome/schwartz-Jampel Type 2 Syndrome

3 CDC
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9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
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28 GO
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30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
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40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
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48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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