MCID: CNT104
MIFTS: 19

Contractures, Congenital, Torticollis, and Malignant Hyperthermia

Categories: 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 56
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:

56
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 arthrogryposis multiplex congenita

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 66)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 scoliosis 58 31 hallmark (90%) Very frequent (99-80%) HP:0002650
2 arthrogryposis multiplex congenita 58 31 hallmark (90%) Very frequent (99-80%) HP:0002804
3 long philtrum 58 31 hallmark (90%) Very frequent (99-80%) HP:0000343
4 skeletal muscle atrophy 58 31 hallmark (90%) Very frequent (99-80%) HP:0003202
5 metatarsus adductus 58 31 hallmark (90%) Very frequent (99-80%) HP:0001840
6 webbed neck 58 31 hallmark (90%) Very frequent (99-80%) HP:0000465
7 mask-like facies 58 31 hallmark (90%) Very frequent (99-80%) HP:0000298
8 talipes equinovarus 58 31 hallmark (90%) Very frequent (99-80%) HP:0001762
9 posteriorly rotated ears 58 31 hallmark (90%) Very frequent (99-80%) HP:0000358
10 facial asymmetry 58 31 hallmark (90%) Very frequent (99-80%) HP:0000324
11 camptodactyly of finger 58 31 hallmark (90%) Very frequent (99-80%) HP:0100490
12 ulnar deviation of finger 58 31 hallmark (90%) Very frequent (99-80%) HP:0009465
13 plagiocephaly 58 31 hallmark (90%) Very frequent (99-80%) HP:0001357
14 tapered finger 58 31 hallmark (90%) Very frequent (99-80%) HP:0001182
15 prominent metopic ridge 58 31 hallmark (90%) Very frequent (99-80%) HP:0005487
16 congenital muscular torticollis 58 31 hallmark (90%) Very frequent (99-80%) HP:0005988
17 abnormality of the mandible 58 31 hallmark (90%) Very frequent (99-80%) HP:0000277
18 pectus excavatum 58 31 frequent (33%) Frequent (79-30%) HP:0000767
19 ptosis 58 31 frequent (33%) Frequent (79-30%) HP:0000508
20 cryptorchidism 58 31 frequent (33%) Frequent (79-30%) HP:0000028
21 downslanted palpebral fissures 58 31 frequent (33%) Frequent (79-30%) HP:0000494
22 cleft palate 58 31 frequent (33%) Frequent (79-30%) HP:0000175
23 narrow mouth 58 31 frequent (33%) Frequent (79-30%) HP:0000160
24 wide intermamillary distance 58 31 frequent (33%) Frequent (79-30%) HP:0006610
25 malignant hyperthermia 58 31 frequent (33%) Frequent (79-30%) HP:0002047
26 prominent nasal bridge 58 31 frequent (33%) Frequent (79-30%) HP:0000426
27 downturned corners of mouth 58 31 frequent (33%) Frequent (79-30%) HP:0002714
28 arachnodactyly 58 31 frequent (33%) Frequent (79-30%) HP:0001166
29 conductive hearing impairment 58 31 frequent (33%) Frequent (79-30%) HP:0000405
30 nasal speech 58 31 frequent (33%) Frequent (79-30%) HP:0001611
31 scrotal hypoplasia 58 31 frequent (33%) Frequent (79-30%) HP:0000046
32 hypotelorism 58 31 frequent (33%) Frequent (79-30%) HP:0000601
33 severe short stature 58 31 frequent (33%) Frequent (79-30%) HP:0003510
34 abnormal lactate dehydrogenase activity 58 31 frequent (33%) Frequent (79-30%) HP:0045040
35 amniotic constriction ring 58 31 frequent (33%) Frequent (79-30%) HP:0009775
36 abnormal aldolase level 58 31 frequent (33%) Frequent (79-30%) HP:0012400
37 long palm 58 31 frequent (33%) Frequent (79-30%) HP:0011302
38 prominence of the zygomatic bone 58 31 frequent (33%) Frequent (79-30%) HP:0012370
39 abnormal circulating creatine kinase concentration 31 frequent (33%) HP:0040081
40 finger syndactyly 58 31 occasional (7.5%) Occasional (29-5%) HP:0006101
41 kyphosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0002808
42 muscular hypotonia 58 31 occasional (7.5%) Occasional (29-5%) HP:0001252
43 inguinal hernia 58 31 occasional (7.5%) Occasional (29-5%) HP:0000023
44 polyhydramnios 58 31 occasional (7.5%) Occasional (29-5%) HP:0001561
45 sloping forehead 58 31 occasional (7.5%) Occasional (29-5%) HP:0000340
46 midface retrusion 58 31 occasional (7.5%) Occasional (29-5%) HP:0011800
47 dyspnea 58 31 occasional (7.5%) Occasional (29-5%) HP:0002094
48 full cheeks 58 31 occasional (7.5%) Occasional (29-5%) HP:0000293
49 dolichocephaly 58 31 occasional (7.5%) Occasional (29-5%) HP:0000268
50 broad alveolar ridges 58 31 occasional (7.5%) Occasional (29-5%) HP:0000187

Symptoms via clinical synopsis from OMIM:

56
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

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. 56
3346884 1988
2
Multiple pterygium syndrome: a case complicated by malignant hyperthermia. 56
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
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30 HMDB
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32 ICD10
33 ICD10 via Orphanet
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43 MeSH
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53 NINDS
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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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