Imperforate oropharynx-costovertebral anomalies syndrome
ORPHA:2759Malformation syndromeNeonatal
Фенотипы (HPO)27
Очень частый (80–99%)14
HP:0000153Abnormality of the mouth
HP:0000159Abnormal lip morphology
HP:0000288Abnormality of the philtrum
HP:0000358Posteriorly rotated ears
HP:0000369Low-set ears
HP:0000600Abnormality of the pharynx
HP:0000772Abnormal rib morphology
HP:0000921Missing ribs
HP:0002094Dyspnea
HP:0002098Respiratory distress
HP:0002205Recurrent respiratory infections
HP:0002878Respiratory failure
HP:0002937Hemivertebrae
HP:0003312Abnormal form of the vertebral bodies
Частый (30–79%)13
HP:0001382Joint hypermobility
HP:0000286Epicanthus
HP:0000396Overfolded helix
HP:0000431Wide nasal bridge
HP:0000453Choanal atresia
HP:0000494Downslanted palpebral fissures
HP:0001166Arachnodactyly
HP:0001561Polyhydramnios
HP:0001622Premature birth
HP:0004209Clinodactyly of the 5th finger
HP:0009896Abnormality of the antitragus
HP:0010295Aplasia/Hypoplasia of the tongue
HP:0011302Long palm
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 2 | 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)