Hypomandibular faciocranial dysostosis
ORPHA:1790Malformation syndromeUnknownAntenatal, Neonatal
Фенотипы (HPO)27
Очень частый (80–99%)9
HP:0000369Low-set ears
HP:0000463Anteverted nares
HP:0002205Recurrent respiratory infections
HP:0003196Short nose
HP:0005439Maxillozygomatic hypoplasia
HP:0005607Abnormal tracheobronchial morphology
HP:0010295Aplasia/Hypoplasia of the tongue
HP:0011800Midface retrusion
HP:0100543Cognitive impairment
Частый (30–79%)11
HP:0000160Narrow mouth
HP:0000175Cleft palate
HP:0000193Bifid uvula
HP:0000248Brachycephaly
HP:0000452Choanal stenosis
HP:0000494Downslanted palpebral fissures
HP:0000520Proptosis
HP:0000588Optic disc coloboma
HP:0001363Craniosynostosis
HP:0001561Polyhydramnios
HP:0008749Laryngeal hypoplasia
Периодический (5–29%)7
HP:0000008Abnormal morphology of female internal genitalia
HP:0000243Trigonocephaly
HP:0000582Upslanted palpebral fissure
HP:0001522Death in infancy
HP:0001631Atrial septal defect
HP:0001643Patent ductus arteriosus
HP:0002777Tracheal stenosis
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)