MCID: CNT104
MIFTS: 19

Contractures, Congenital, Torticollis, and Malignant Hyperthermia

Categories: Cancer diseases, Fetal diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Contractures, Congenital, Torticollis, and Malignant...

MalaCards integrated aliases for Contractures, Congenital, Torticollis, and Malignant Hyperthermia:

Name: Contractures, Congenital, Torticollis, and Malignant Hyperthermia 57
Malignant Hyperthermia-Arthrogryposis-Torticollis Syndrome 58
Multiple Pterygium-Malignant Hyperthermia Syndrome 58
Froster-Iskenius-Waterson-Hall Syndrome 58

Characteristics:

Orphanet epidemiological data:

58
multiple pterygium-malignant hyperthermia syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Neonatal;

OMIM®:

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


HPO:

31
contractures, congenital, torticollis, and malignant hyperthermia:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 58  
Rare neurological diseases
Developmental anomalies during embryogenesis


Summaries for Contractures, Congenital, Torticollis, and Malignant...

MalaCards based summary : Contractures, Congenital, Torticollis, and Malignant Hyperthermia, is also known as malignant hyperthermia-arthrogryposis-torticollis syndrome. Affiliated tissues include bone and skeletal muscle, and related phenotypes are scoliosis and skeletal muscle atrophy

More information from OMIM: 217150

Related Diseases for Contractures, Congenital, Torticollis, and Malignant...

Symptoms & Phenotypes for Contractures, Congenital, Torticollis, and Malignant...

Human phenotypes related to Contractures, Congenital, Torticollis, and Malignant Hyperthermia:

58 31 (show top 50) (show all 68)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 scoliosis 58 31 hallmark (90%) Very frequent (99-80%) HP:0002650
2 skeletal muscle atrophy 58 31 hallmark (90%) Very frequent (99-80%) HP:0003202
3 metatarsus adductus 58 31 hallmark (90%) Very frequent (99-80%) HP:0001840
4 webbed neck 58 31 hallmark (90%) Very frequent (99-80%) HP:0000465
5 mask-like facies 58 31 hallmark (90%) Very frequent (99-80%) HP:0000298
6 talipes equinovarus 58 31 hallmark (90%) Very frequent (99-80%) HP:0001762
7 facial asymmetry 58 31 hallmark (90%) Very frequent (99-80%) HP:0000324
8 long philtrum 58 31 hallmark (90%) Very frequent (99-80%) HP:0000343
9 arthrogryposis multiplex congenita 58 31 hallmark (90%) Very frequent (99-80%) HP:0002804
10 ulnar deviation of finger 58 31 hallmark (90%) Very frequent (99-80%) HP:0009465
11 camptodactyly of finger 58 31 hallmark (90%) Very frequent (99-80%) HP:0100490
12 tapered finger 58 31 hallmark (90%) Very frequent (99-80%) HP:0001182
13 plagiocephaly 58 31 hallmark (90%) Very frequent (99-80%) HP:0001357
14 prominent metopic ridge 58 31 hallmark (90%) Very frequent (99-80%) HP:0005487
15 congenital muscular torticollis 58 31 hallmark (90%) Very frequent (99-80%) HP:0005988
16 posteriorly rotated ears 58 31 hallmark (90%) Very frequent (99-80%) HP:0000358
17 abnormality of the mandible 58 31 hallmark (90%) Very frequent (99-80%) HP:0000277
18 ptosis 58 31 frequent (33%) Frequent (79-30%) HP:0000508
19 cleft palate 58 31 frequent (33%) Frequent (79-30%) HP:0000175
20 cryptorchidism 58 31 frequent (33%) Frequent (79-30%) HP:0000028
21 wide intermamillary distance 58 31 frequent (33%) Frequent (79-30%) HP:0006610
22 pectus excavatum 58 31 frequent (33%) Frequent (79-30%) HP:0000767
23 malignant hyperthermia 58 31 frequent (33%) Frequent (79-30%) HP:0002047
24 arachnodactyly 58 31 frequent (33%) Frequent (79-30%) HP:0001166
25 downslanted palpebral fissures 58 31 frequent (33%) Frequent (79-30%) HP:0000494
26 narrow mouth 58 31 frequent (33%) Frequent (79-30%) HP:0000160
27 conductive hearing impairment 58 31 frequent (33%) Frequent (79-30%) HP:0000405
28 downturned corners of mouth 58 31 frequent (33%) Frequent (79-30%) HP:0002714
29 prominent nasal bridge 58 31 frequent (33%) Frequent (79-30%) HP:0000426
30 nasal speech 58 31 frequent (33%) Frequent (79-30%) HP:0001611
31 hypotelorism 58 31 frequent (33%) Frequent (79-30%) HP:0000601
32 scrotal hypoplasia 58 31 frequent (33%) Frequent (79-30%) HP:0000046
33 severe short stature 58 31 frequent (33%) Frequent (79-30%) HP:0003510
34 amniotic constriction ring 58 31 frequent (33%) Frequent (79-30%) HP:0009775
35 abnormal aldolase level 58 31 frequent (33%) Frequent (79-30%) HP:0012400
36 long palm 58 31 frequent (33%) Frequent (79-30%) HP:0011302
37 prominence of the zygomatic bone 58 31 frequent (33%) Frequent (79-30%) HP:0012370
38 abnormal circulating creatine kinase concentration 31 frequent (33%) HP:0040081
39 abnormal lactate dehydrogenase level 31 frequent (33%) HP:0045040
40 kyphosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0002808
41 inguinal hernia 58 31 occasional (7.5%) Occasional (29-5%) HP:0000023
42 full cheeks 58 31 occasional (7.5%) Occasional (29-5%) HP:0000293
43 hyperconvex fingernails 58 31 occasional (7.5%) Occasional (29-5%) HP:0001812
44 dyspnea 58 31 occasional (7.5%) Occasional (29-5%) HP:0002094
45 dolichocephaly 58 31 occasional (7.5%) Occasional (29-5%) HP:0000268
46 polyhydramnios 58 31 occasional (7.5%) Occasional (29-5%) HP:0001561
47 abnormality of the ribs 58 31 occasional (7.5%) Occasional (29-5%) HP:0000772
48 proptosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0000520
49 capillary hemangioma 58 31 occasional (7.5%) Occasional (29-5%) HP:0005306
50 finger syndactyly 58 31 occasional (7.5%) Occasional (29-5%) HP:0006101

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Mar-2021)
H E E N T:
cleft palate
natal teeth

Mandible:
restricted motion

Limbs:
arthrogryposis
axillary webbing

Metabolic:
malignant hyperthermia with anesthesia

Clinical features from OMIM®:

217150 (Updated 05-Mar-2021)

Drugs & Therapeutics for Contractures, Congenital, Torticollis, and Malignant...

Search Clinical Trials , NIH Clinical Center for Contractures, Congenital, Torticollis, and Malignant Hyperthermia

Genetic Tests for Contractures, Congenital, Torticollis, and Malignant...

Anatomical Context for Contractures, Congenital, Torticollis, and Malignant...

MalaCards organs/tissues related to Contractures, Congenital, Torticollis, and Malignant Hyperthermia:

40
Bone, Skeletal Muscle

Publications for Contractures, Congenital, Torticollis, and Malignant...

Articles related to Contractures, Congenital, Torticollis, and Malignant Hyperthermia:

# Title Authors PMID Year
1
A recessive form of congenital contractures and torticollis associated with malignant hyperthermia. 57
3346884 1988
2
Multiple pterygium syndrome: a case complicated by malignant hyperthermia. 57
3621655 1987

Variations for Contractures, Congenital, Torticollis, and Malignant...

Expression for Contractures, Congenital, Torticollis, and Malignant...

Search GEO for disease gene expression data for Contractures, Congenital, Torticollis, and Malignant Hyperthermia.

Pathways for Contractures, Congenital, Torticollis, and Malignant...

GO Terms for Contractures, Congenital, Torticollis, and Malignant...

Sources for Contractures, Congenital, Torticollis, and Malignant...

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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