MCID: CNT104
MIFTS: 20

Contractures, Congenital, Torticollis, and Malignant Hyperthermia

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


Inheritance:

Contractures, Congenital, Torticollis, and Malignant Hyperthermia: Autosomal recessive 57
Multiple Pterygium-Malignant Hyperthermia Syndrome: Autosomal recessive 58

Prevelance:

Multiple Pterygium-Malignant Hyperthermia Syndrome: <1/1000000 (Worldwide) 58

Age Of Onset:

Multiple Pterygium-Malignant Hyperthermia Syndrome: Neonatal 58

Classifications:

Orphanet: 58  
Rare neurological diseases
Developmental anomalies during embryogenesis


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

Orphanet: 58 An extremely rare arthrogryposis syndrome, described in only two pairs of siblings from two unrelated families to date, and characterized by the association of arthrogryposis, congenital torticollis, dysmorphic facial features (i.e. asymmetry of the face, myopathic facial movements, ptosis, posteriorly rotated ears, cleft palate), progressive scoliosis and episodes of malignant hyperthermia. There have been no further descriptions in the literature since 1988.

MalaCards based summary: Contractures, Congenital, Torticollis, and Malignant Hyperthermia, is also known as malignant hyperthermia-arthrogryposis-torticollis syndrome. Affiliated tissues include skeletal muscle and bone, 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 30 (showing 69, show less)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 scoliosis 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0002650
2 skeletal muscle atrophy 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0003202
3 metatarsus adductus 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0001840
4 webbed neck 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0000465
5 mask-like facies 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0000298
6 talipes equinovarus 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0001762
7 facial asymmetry 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0000324
8 long philtrum 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0000343
9 arthrogryposis multiplex congenita 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0002804
10 ulnar deviation of finger 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0009465
11 camptodactyly of finger 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0100490
12 tapered finger 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0001182
13 plagiocephaly 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0001357
14 prominent metopic ridge 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0005487
15 congenital muscular torticollis 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0005988
16 posteriorly rotated ears 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0000358
17 abnormal mandible morphology 30 Hallmark (90%) HP:0000277
18 ptosis 58 30 Frequent (33%) Frequent (79-30%)
HP:0000508
19 cleft palate 58 30 Frequent (33%) Frequent (79-30%)
HP:0000175
20 cryptorchidism 58 30 Frequent (33%) Frequent (79-30%)
HP:0000028
21 wide intermamillary distance 58 30 Frequent (33%) Frequent (79-30%)
HP:0006610
22 pectus excavatum 58 30 Frequent (33%) Frequent (79-30%)
HP:0000767
23 malignant hyperthermia 58 30 Frequent (33%) Frequent (79-30%)
HP:0002047
24 abnormal circulating creatine kinase concentration 58 30 Frequent (33%) Frequent (79-30%)
HP:0040081
25 arachnodactyly 58 30 Frequent (33%) Frequent (79-30%)
HP:0001166
26 downslanted palpebral fissures 58 30 Frequent (33%) Frequent (79-30%)
HP:0000494
27 narrow mouth 58 30 Frequent (33%) Frequent (79-30%)
HP:0000160
28 conductive hearing impairment 58 30 Frequent (33%) Frequent (79-30%)
HP:0000405
29 downturned corners of mouth 58 30 Frequent (33%) Frequent (79-30%)
HP:0002714
30 prominent nasal bridge 58 30 Frequent (33%) Frequent (79-30%)
HP:0000426
31 nasal speech 58 30 Frequent (33%) Frequent (79-30%)
HP:0001611
32 hypotelorism 58 30 Frequent (33%) Frequent (79-30%)
HP:0000601
33 severe short stature 58 30 Frequent (33%) Frequent (79-30%)
HP:0003510
34 amniotic constriction ring 58 30 Frequent (33%) Frequent (79-30%)
HP:0009775
35 abnormal aldolase level 58 30 Frequent (33%) Frequent (79-30%)
HP:0012400
36 long palm 58 30 Frequent (33%) Frequent (79-30%)
HP:0011302
37 prominence of the zygomatic bone 58 30 Frequent (33%) Frequent (79-30%)
HP:0012370
38 small scrotum 30 Frequent (33%) HP:0000046
39 abnormal lactate dehydrogenase level 30 Frequent (33%) HP:0045040
40 kyphosis 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0002808
41 hypotonia 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0001252
42 inguinal hernia 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000023
43 full cheeks 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000293
44 hyperconvex fingernails 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0001812
45 dyspnea 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0002094
46 dolichocephaly 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000268
47 polyhydramnios 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0001561
48 proptosis 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000520
49 capillary hemangioma 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0005306
50 finger syndactyly 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0006101
51 prenatal movement abnormality 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0001557
52 midface retrusion 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0011800
53 hypoplastic fingernail 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0001804
54 advanced eruption of teeth 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0006288
55 sloping forehead 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000340
56 fingernail dysplasia 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0100798
57 ridged fingernail 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0008402
58 exaggerated cupid's bow 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0002263
59 hemiatrophy 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0100556
60 broad alveolar ridges 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000187
61 naevus flammeus of the eyelid 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0010733
62 onychogryposis of fingernail 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0040036
63 abnormal rib morphology 30 Occasional (7.5%) HP:0000772
64 abnormality of the ribs 58 Occasional (29-5%)
65 scrotal hypoplasia 58 Frequent (79-30%)
66 abnormality of the mandible 58 Very frequent (99-80%)
67 natal tooth 30 HP:0000695
68 torticollis 30 HP:0000473
69 abnormal lactate dehydrogenase activity 58 Frequent (79-30%)

Symptoms via clinical synopsis from OMIM®:

57 (Updated 08-Dec-2022)
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 08-Dec-2022)

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...

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

MalaCards : Skeletal Muscle, Bone

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

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

(showing 2, show less)
# 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...

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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