Myhre syndrome
ORPHA:2588Malformation syndromeAutosomal dominantAntenatal, Infancy, Neonatal
Ассоциированные гены1
Фенотипы (HPO)47
Очень частый (80–99%)20
HP:0000160Narrow mouth
HP:0000233Thin vermilion border
HP:0000303Mandibular prognathia
HP:0000327Hypoplasia of the maxilla
HP:0000365Hearing impairment
HP:0000772Abnormal rib morphology
HP:0000926Platyspondyly
HP:0001156Brachydactyly
HP:0001249Intellectual disability
HP:0001263Global developmental delay
HP:0001328Specific learning disability
HP:0001387Joint stiffness
HP:0001511Intrauterine growth retardation
HP:0003172Abnormality of the pubic bone
HP:0003510Severe short stature
HP:0003712Skeletal muscle hypertrophy
HP:0004279Short palm
HP:0004493Craniofacial hyperostosis
HP:0008818Large iliac wings
HP:0011800Midface retrusion
Частый (30–79%)12
HP:0000028Cryptorchidism
HP:0000159Abnormal lip morphology
HP:0000508Ptosis
HP:0000581Blepharophimosis
HP:0000822Hypertension
HP:0000944Abnormal metaphysis morphology
HP:0001072Thickened skin
HP:0001671Abnormal cardiac septum morphology
HP:0003457EMG abnormality
HP:0005930Abnormality of epiphysis morphology
HP:0008499High hypermetropia
HP:0012745Short palpebral fissure
Периодический (5–29%)15
HP:0000023Inguinal hernia
HP:0000036Abnormality of the penis
HP:0000039Epispadias
HP:0000047Hypospadias
HP:0000135Hypogonadism
HP:0000175Cleft palate
HP:0000176Submucous cleft hard palate
HP:0000193Bifid uvula
HP:0000518Cataract
HP:0000708Atypical behavior
HP:0000826Precocious puberty
HP:0003241External genital hypoplasia
HP:0030690Gingival cleft
HP:0100333Unilateral cleft lip
HP:0100541Femoral hernia
Эпидемиология1
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| 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)