MCID: CNT104
MIFTS: 20

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 57
Malignant Hyperthermia-Arthrogryposis-Torticollis Syndrome 59
Multiple Pterygium-Malignant Hyperthermia Syndrome 59
Froster-Iskenius-Waterson-Hall Syndrome 59

Characteristics:

Orphanet epidemiological data:

59
multiple pterygium-malignant hyperthermia syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Neonatal;

OMIM:

57
Inheritance:
autosomal recessive


HPO:

32
contractures, congenital, torticollis, and malignant hyperthermia:
Inheritance autosomal recessive inheritance


Classifications:



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 pectus excavatum and finger syndactyly

Description from OMIM: 217150

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

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

Symptoms via clinical synopsis from OMIM:

57
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

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

59 32 (show top 50) (show all 66)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 pectus excavatum 59 32 frequent (33%) Frequent (79-30%) HP:0000767
2 finger syndactyly 59 32 occasional (7.5%) Occasional (29-5%) HP:0006101
3 ptosis 59 32 frequent (33%) Frequent (79-30%) HP:0000508
4 muscular hypotonia 59 32 occasional (7.5%) Occasional (29-5%) HP:0001252
5 scoliosis 59 32 hallmark (90%) Very frequent (99-80%) HP:0002650
6 kyphosis 59 32 occasional (7.5%) Occasional (29-5%) HP:0002808
7 inguinal hernia 59 32 occasional (7.5%) Occasional (29-5%) HP:0000023
8 dyspnea 59 32 occasional (7.5%) Occasional (29-5%) HP:0002094
9 full cheeks 59 32 occasional (7.5%) Occasional (29-5%) HP:0000293
10 skeletal muscle atrophy 59 32 hallmark (90%) Very frequent (99-80%) HP:0003202
11 cleft palate 59 32 frequent (33%) Frequent (79-30%) HP:0000175
12 long philtrum 59 32 hallmark (90%) Very frequent (99-80%) HP:0000343
13 broad alveolar ridges 59 32 occasional (7.5%) Occasional (29-5%) HP:0000187
14 dolichocephaly 59 32 occasional (7.5%) Occasional (29-5%) HP:0000268
15 cryptorchidism 59 32 frequent (33%) Frequent (79-30%) HP:0000028
16 metatarsus adductus 59 32 hallmark (90%) Very frequent (99-80%) HP:0001840
17 wide intermamillary distance 59 32 frequent (33%) Frequent (79-30%) HP:0006610
18 webbed neck 59 32 hallmark (90%) Very frequent (99-80%) HP:0000465
19 hyperconvex fingernails 59 32 occasional (7.5%) Occasional (29-5%) HP:0001812
20 mask-like facies 59 32 hallmark (90%) Very frequent (99-80%) HP:0000298
21 arthrogryposis multiplex congenita 59 32 hallmark (90%) Very frequent (99-80%) HP:0002804
22 talipes equinovarus 59 32 hallmark (90%) Very frequent (99-80%) HP:0001762
23 malignant hyperthermia 59 32 frequent (33%) Frequent (79-30%) HP:0002047
24 prominent nasal bridge 59 32 frequent (33%) Frequent (79-30%) HP:0000426
25 arachnodactyly 59 32 frequent (33%) Frequent (79-30%) HP:0001166
26 downslanted palpebral fissures 59 32 frequent (33%) Frequent (79-30%) HP:0000494
27 narrow mouth 59 32 frequent (33%) Frequent (79-30%) HP:0000160
28 conductive hearing impairment 59 32 frequent (33%) Frequent (79-30%) HP:0000405
29 downturned corners of mouth 59 32 frequent (33%) Frequent (79-30%) HP:0002714
30 polyhydramnios 59 32 occasional (7.5%) Occasional (29-5%) HP:0001561
31 nasal speech 59 32 frequent (33%) Frequent (79-30%) HP:0001611
32 abnormality of the ribs 59 32 occasional (7.5%) Occasional (29-5%) HP:0000772
33 severe short stature 59 32 frequent (33%) Frequent (79-30%) HP:0003510
34 midface retrusion 59 32 occasional (7.5%) Occasional (29-5%) HP:0011800
35 proptosis 59 32 occasional (7.5%) Occasional (29-5%) HP:0000520
36 hypotelorism 59 32 frequent (33%) Frequent (79-30%) HP:0000601
37 camptodactyly of finger 59 32 hallmark (90%) Very frequent (99-80%) HP:0100490
38 facial asymmetry 59 32 hallmark (90%) Very frequent (99-80%) HP:0000324
39 ulnar deviation of finger 59 32 hallmark (90%) Very frequent (99-80%) HP:0009465
40 prenatal movement abnormality 59 32 occasional (7.5%) Occasional (29-5%) HP:0001557
41 plagiocephaly 59 32 hallmark (90%) Very frequent (99-80%) HP:0001357
42 tapered finger 59 32 hallmark (90%) Very frequent (99-80%) HP:0001182
43 hypoplastic fingernail 59 32 occasional (7.5%) Occasional (29-5%) HP:0001804
44 advanced eruption of teeth 59 32 occasional (7.5%) Occasional (29-5%) HP:0006288
45 sloping forehead 59 32 occasional (7.5%) Occasional (29-5%) HP:0000340
46 prominent metopic ridge 59 32 hallmark (90%) Very frequent (99-80%) HP:0005487
47 scrotal hypoplasia 59 32 frequent (33%) Frequent (79-30%) HP:0000046
48 congenital muscular torticollis 59 32 hallmark (90%) Very frequent (99-80%) HP:0005988
49 fingernail dysplasia 59 32 occasional (7.5%) Occasional (29-5%) HP:0100798
50 ridged fingernail 59 32 occasional (7.5%) Occasional (29-5%) HP:0008402

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:

41
Bone, Skeletal Muscle

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

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...

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74 UMLS via Orphanet
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