Multiple pterygium-malignant hyperthermia syndrome
ORPHA:2215Malformation syndromeAutosomal recessiveNeonatal
Фенотипы (HPO)63
Очень частый (80–99%)17
HP:0000277Abnormality of the mandible
HP:0000298Mask-like facies
HP:0000324Facial asymmetry
HP:0000343Long philtrum
HP:0000358Posteriorly rotated ears
HP:0000465Webbed neck
HP:0001182Tapered finger
HP:0001357Plagiocephaly
HP:0001762Talipes equinovarus
HP:0001840Metatarsus adductus
HP:0002650Scoliosis
HP:0002804Arthrogryposis multiplex congenita
HP:0003202Skeletal muscle atrophy
HP:0005487Prominent metopic ridge
HP:0005988Congenital muscular torticollis
HP:0009465Ulnar deviation of finger
HP:0100490Camptodactyly of finger
Частый (30–79%)22
HP:0000028Cryptorchidism
HP:0000046Small scrotum
HP:0000160Narrow mouth
HP:0000175Cleft palate
HP:0000405Conductive hearing impairment
HP:0000426Prominent nasal bridge
HP:0000494Downslanted palpebral fissures
HP:0000508Ptosis
HP:0000601Hypotelorism
HP:0000767Pectus excavatum
HP:0001166Arachnodactyly
HP:0001611Hypernasal speech
HP:0002047Malignant hyperthermia
HP:0002714Downturned corners of mouth
HP:0003510Severe short stature
HP:0006610Wide intermamillary distance
HP:0009775Amniotic constriction ring
HP:0011302Long palm
HP:0012370Prominence of the zygomatic bone
HP:0012400Abnormal aldolase level
HP:0040081Abnormal circulating creatine kinase concentration
HP:0045040Abnormal lactate dehydrogenase activity
Периодический (5–29%)24
HP:0000023Inguinal hernia
HP:0000187Broad alveolar ridges
HP:0000268Dolichocephaly
HP:0000293Full cheeks
HP:0000340Sloping forehead
HP:0000520Proptosis
HP:0000772Abnormal rib morphology
HP:0001252Hypotonia
HP:0001557Prenatal movement abnormality
HP:0001561Polyhydramnios
HP:0001804Hypoplastic fingernail
HP:0001812Hyperconvex fingernails
HP:0002094Dyspnea
HP:0002263Exaggerated cupid's bow
HP:0002808Kyphosis
HP:0005306Capillary hemangioma
HP:0006101Finger syndactyly
HP:0006288Advanced eruption of teeth
HP:0008402Ridged fingernail
HP:0010733Naevus flammeus of the eyelid
HP:0011800Midface retrusion
HP:0040036Onychogryposis of fingernail
HP:0100556Hemiatrophy
HP:0100798Fingernail dysplasia
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 4 | Worldwide | Case(s) |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)