Malignant hyperthermia - arthrogryposis - torticollis
General Information (adopted from Orphanet):
| Synonyms, Signs: |
Froster-Iskenius-Waterson syndrome |
| Number of Symptoms | 61 |
| OrphanetNr: | 2215 |
| OMIM Id: |
217150
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| ICD-10: |
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| UMLs: |
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| MeSH: |
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| MedDRA: |
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| Snomed: |
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Prevalence, inheritance and age of onset:
| Prevalence: | 4 cases [Orphanet] |
| Inheritance: |
Autosomal recessive [Orphanet] |
| Age of onset: |
Neonatal [Orphanet] |
Disease classification (adopted from Orphanet):
| Parent Diseases: |
Arthrogryposis multiplex congenita
-Rare developmental defect during embryogenesis Syndrome or malformation associated with head and neck malformations -Rare developmental defect during embryogenesis -Rare genetic disease -Rare maxillo-facial surgical disease -Rare otorhinolaryngologic disease |
Symptom Information:
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(HPO:0000601) | Hypotelorism | Occasional [Orphanet] | 83 / 7739 | |||
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(HPO:0000520) | Proptosis | Occasional [Orphanet] | 192 / 7739 | |||
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(HPO:0000508) | Ptosis | Frequent [Orphanet] | 459 / 7739 | |||
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(HPO:0002093) | Respiratory insufficiency | Occasional [Orphanet] | 410 / 7739 | |||
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(HPO:0001608) | Abnormality of the voice | Frequent [Orphanet] | 126 / 7739 | |||
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(HPO:0009775) | Amniotic constriction ring | Frequent [Orphanet] | 21 / 7739 | |||
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(HPO:0004322) | Short stature | Frequent [Orphanet] | 1232 / 7739 | |||
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(HPO:0011331) | Hemifacial atrophy | Very frequent [Orphanet] | 79 / 7739 | |||
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(HPO:0003202) | Skeletal muscle atrophy | Very frequent [Orphanet] | 281 / 7739 | |||
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(HPO:0001252) | Muscular hypotonia | Occasional [Orphanet] | 990 / 7739 | |||
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(HPO:0001561) | Polyhydramnios | Occasional [Orphanet] | 191 / 7739 | |||
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(HPO:0100490) | Camptodactyly of finger | Very frequent [Orphanet] | 212 / 7739 | |||
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(HPO:0009465) | Ulnar deviation of finger | Very frequent [Orphanet] | 48 / 7739 | |||
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(HPO:0011302) | Long palm | Frequent [Orphanet] | 70 / 7739 | |||
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(HPO:0001182) | Tapered finger | Very frequent [Orphanet] | 93 / 7739 | |||
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(HPO:0006101) | Finger syndactyly | Occasional [Orphanet] | 198 / 7739 | |||
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(HPO:0001762) | Talipes equinovarus | Very frequent [Orphanet] | 309 / 7739 | |||
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(HPO:0002804) | Arthrogryposis multiplex congenita | 93 / 7739 | ||||
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(HPO:0000277) | Abnormality of the mandible | Very frequent [Orphanet] | 394 / 7739 | |||
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(HPO:0000268) | Dolichocephaly | Occasional [Orphanet] | 144 / 7739 | |||
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(HPO:0001357) | Plagiocephaly | Very frequent [Orphanet] | 106 / 7739 | |||
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(HPO:0005487) | Prominent metopic ridge | Very frequent [Orphanet] | 28 / 7739 | |||
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(HPO:0000340) | Sloping forehead | Occasional [Orphanet] | 86 / 7739 | |||
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(HPO:0000772) | Abnormality of the ribs | Occasional [Orphanet] | 146 / 7739 | |||
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(HPO:0000767) | Pectus excavatum | Frequent [Orphanet] | 244 / 7739 | |||
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(HPO:0002808) | Kyphosis | Occasional [Orphanet] | 289 / 7739 | |||
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(HPO:0002650) | Scoliosis | Very frequent [Orphanet] | 705 / 7739 | |||
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(HPO:0001387) | Joint stiffness | Very frequent [Orphanet] | 322 / 7739 | |||
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(HPO:0001231) | Abnormality of the fingernails | Occasional [Orphanet] | 116 / 7739 | |||
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(HPO:0001805) | Thick nail | Occasional [Orphanet] | 96 / 7739 | |||
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(HPO:0002047) | Malignant hyperthermia | Frequent [Orphanet] | 20 / 7739 | |||
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(HPO:0004299) | Hernia of the abdominal wall | Occasional [Orphanet] | 176 / 7739 | |||
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(HPO:0000046) | Scrotal hypoplasia | Frequent [Orphanet] | 54 / 7739 | |||
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(HPO:0000035) | Abnormality of the testis | Frequent [Orphanet] | 296 / 7739 | |||
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(HPO:0000298) | Mask-like facies | Frequent [Orphanet] | 44 / 7739 | |||
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(HPO:0000494) | Downslanted palpebral fissures | Frequent [Orphanet] | 328 / 7739 | |||
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(HPO:0000293) | Full cheeks | Occasional [Orphanet] | 85 / 7739 | |||
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(HPO:0010620) | Malar prominence | Frequent [Orphanet] | 7 / 7739 | |||
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(HPO:0011800) | Midface retrusion | Occasional [Orphanet] | 221 / 7739 | |||
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(HPO:0000187) | Broad alveolar ridges | Occasional [Orphanet] | 14 / 7739 | |||
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(HPO:0000174) | Abnormality of the palate | Frequent [Orphanet] | 298 / 7739 | |||
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(HPO:0000175) | Cleft palate | 349 / 7739 | ||||
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(HPO:0000695) | Natal tooth | Occasional [Orphanet] | 42 / 7739 | |||
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(HPO:0002714) | Downturned corners of mouth | Frequent [Orphanet] | 98 / 7739 | |||
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(HPO:0002263) | Exaggerated cupid's bow | Occasional [Orphanet] | 15 / 7739 | |||
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(HPO:0000343) | Long philtrum | Very frequent [Orphanet] | 262 / 7739 | |||
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(HPO:0000160) | Narrow mouth | Frequent [Orphanet] | 188 / 7739 | |||
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(HPO:0000426) | Prominent nasal bridge | Frequent [Orphanet] | 121 / 7739 | |||
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(HPO:0000405) | Conductive hearing impairment | Frequent [Orphanet] | 164 / 7739 | |||
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(HPO:0005988) | Congenital muscular torticollis | Very frequent [Orphanet] | 11 / 7739 | |||
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(HPO:0000465) | Webbed neck | Very frequent [Orphanet] | 81 / 7739 | |||
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(HPO:0004404) | Abnormality of the nipple | Frequent [Orphanet] | 54 / 7739 | |||
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(HPO:0000357) | Abnormal location of ears | Very frequent [Orphanet] | 328 / 7739 | |||
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(HPO:0001052) | Nevus flammeus | Occasional [Orphanet] | 88 / 7739 | |||
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(HPO:0100555) | Asymmetric growth | Occasional [Orphanet] | 25 / 7739 | |||
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(HPO:0002803) | Congenital contracture | Very frequent [Orphanet] | 45 / 7739 | |||
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(HPO:0001557) | Prenatal movement abnormality | Occasional [Orphanet] | 16 / 7739 | |||
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(HPO:0030089) | Abnormal muscle fiber protein expression | Frequent [Orphanet] | 64 / 7739 | |||
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(HPO:0000007) | Autosomal recessive inheritance | 2538 / 7739 | ||||
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(OMIM) | Axillary webbing | 2 / 7739 | ||||
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(OMIM) | Restricted motion | 1 / 7739 |
Associated genes:
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
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