Edinburgh malformation syndrome
ORPHA:1895Malformation syndromeUnknownNeonatal
Фенотипы (HPO)28
Очень частый (80–99%)10
HP:0000233Thin vermilion border
HP:0000453Choanal atresia
HP:0001007Hirsutism
HP:0001249Intellectual disability
HP:0001508Failure to thrive
HP:0001608Abnormality of the voice
HP:0002007Frontal bossing
HP:0002093Respiratory insufficiency
HP:0002714Downturned corners of mouth
HP:0008056Aplasia/Hypoplasia affecting the eye
Частый (30–79%)12
HP:0000238Hydrocephalus
HP:0000347Micrognathia
HP:0000369Low-set ears
HP:0000463Anteverted nares
HP:0000664Synophrys
HP:0001238Slender finger
HP:0001250Seizure
HP:0001276Hypertonia
HP:0002162Low posterior hairline
HP:0002230Generalized hirsutism
HP:0003196Short nose
HP:0100807Long fingers
Периодический (5–29%)6
HP:0000160Narrow mouth
HP:0001088Brushfield spots
HP:0001387Joint stiffness
HP:0002269Abnormality of neuronal migration
HP:0005616Accelerated skeletal maturation
HP:0009465Ulnar deviation of finger
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)