Keutel syndrome
ORPHA:85202Malformation syndromeAutosomal recessiveChildhood
Ассоциированные гены1
Фенотипы (HPO)24
Очень частый (80–99%)8
HP:0000276Long face
HP:0000445Wide nose
HP:0004415Pulmonary artery stenosis
HP:0005280Depressed nasal bridge
HP:0009882Short distal phalanx of finger
HP:0011800Midface retrusion
HP:0100593Calcification of cartilage
HP:0100682Tracheal atresia
Частый (30–79%)10
HP:0000340Sloping forehead
HP:0000365Hearing impairment
HP:0000403Recurrent otitis media
HP:0000430Underdeveloped nasal alae
HP:0001256Intellectual disability, mild
HP:0001263Global developmental delay
HP:0001629Ventricular septal defect
HP:0002092Pulmonary arterial hypertension
HP:0002205Recurrent respiratory infections
HP:0011108Recurrent sinusitis
Периодический (5–29%)6
HP:0000648Optic atrophy
HP:0001027Soft, doughy skin
HP:0001250Seizure
HP:0001596Alopecia
HP:0004322Short stature
HP:0004334Dermal atrophy
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 30 | 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)