MCID: CNT104
MIFTS: 20
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Contractures, Congenital, Torticollis, and Malignant Hyperthermia
Categories:
Cancer diseases, Fetal diseases, Neuronal diseases, Rare diseases
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MalaCards integrated aliases for Contractures, Congenital, Torticollis, and Malignant Hyperthermia:
Name: Contractures, Congenital, Torticollis, and Malignant Hyperthermia
57
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:
MalaCards categories:
Global: Fetal diseases Rare diseases Cancer diseases Anatomical: Neuronal diseases
ICD10:
32
Orphanet: 58
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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
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Human phenotypes related to Contractures, Congenital, Torticollis, and Malignant Hyperthermia:58 30 (show top 50) (show all 69)
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Organs/tissues related to Contractures, Congenital, Torticollis, and Malignant Hyperthermia:
MalaCards :
Skeletal Muscle,
Bone
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Articles related to Contractures, Congenital, Torticollis, and Malignant Hyperthermia:
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Search
GEO
for disease gene expression data for Contractures, Congenital, Torticollis, and Malignant Hyperthermia.
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