Ptosis-upper ocular movement limitation-absence of lacrimal punctum syndrome
ORPHA:228396Malformation syndromeAutosomal recessiveInfancy, Neonatal
Фенотипы (HPO)18
Очень частый (80–99%)12
HP:0000327Hypoplasia of the maxilla
HP:0000343Long philtrum
HP:0000463Anteverted nares
HP:0000496Abnormality of eye movement
HP:0000506Telecanthus
HP:0000508Ptosis
HP:0000561Absent eyelashes
HP:0000574Thick eyebrow
HP:0001092Absent lacrimal punctum
HP:0002553Highly arched eyebrow
HP:0004209Clinodactyly of the 5th finger
HP:0004422Biparietal narrowing
Частый (30–79%)6
HP:0000308Microretrognathia
HP:0000340Sloping forehead
HP:0000358Posteriorly rotated ears
HP:0000377Abnormal pinna morphology
HP:0005180Tricuspid regurgitation
HP:0012471Thick vermilion border
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 3 | 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)