McDonough syndrome
ORPHA:2471Malformation syndromeInfancy, Neonatal
Фенотипы (HPO)27
Очень частый (80–99%)13
HP:0000336Prominent supraorbital ridges
HP:0000400Macrotia
HP:0000411Protruding ear
HP:0000448Prominent nose
HP:0000486Strabismus
HP:0000664Synophrys
HP:0001249Intellectual disability
HP:0002650Scoliosis
HP:0002808Kyphosis
HP:0004322Short stature
HP:0010318Aplasia/Hypoplasia of the abdominal wall musculature
HP:0010807Open bite
HP:0030680Abnormal cardiovascular system morphology
Частый (30–79%)14
HP:0000358Posteriorly rotated ears
HP:0000028Cryptorchidism
HP:0000174Abnormal palate morphology
HP:0000303Mandibular prognathia
HP:0000316Hypertelorism
HP:0000322Short philtrum
HP:0000347Micrognathia
HP:0000430Underdeveloped nasal alae
HP:0000508Ptosis
HP:0000689Dental malocclusion
HP:0000767Pectus excavatum
HP:0004326Cachexia
HP:0007598Bilateral single transverse palmar creases
HP:0012745Short palpebral fissure
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 2 | Worldwide | Family(ies) |
| 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)