Microcephaly-facial dysmorphism-ocular anomalies-multiple congenital anomalies syndrome
ORPHA:521445Malformation syndromeAutosomal dominantInfancy, Neonatal
Ассоциированные гены1
Фенотипы (HPO)27
Частый (30–79%)27
HP:0000077Abnormality of the kidney
HP:0000248Brachycephaly
HP:0000252Microcephaly
HP:0000303Mandibular prognathia
HP:0000321Square face
HP:0000322Short philtrum
HP:0000400Macrotia
HP:0000431Wide nasal bridge
HP:0000541Retinal detachment
HP:0000545Myopia
HP:0000557Buphthalmos
HP:0000558Rieger anomaly
HP:0000696Delayed eruption of permanent teeth
HP:0000787Nephrolithiasis
HP:0000851Congenital hypothyroidism
HP:0001182Tapered finger
HP:0001848Calcaneovalgus deformity
HP:0002076Migraine
HP:0005487Prominent metopic ridge
HP:0005990Thyroid hypoplasia
HP:0008007Primary congenital glaucoma
HP:0008619Bilateral sensorineural hearing impairment
HP:0010490Abnormality of the palmar creases
HP:0010804Tented upper lip vermilion
HP:0012448Delayed myelination
HP:0020038Vertebrobasilar dolichoectasia
HP:0100807Long fingers
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 10 | 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)