Isotretinoin-like syndrome
ORPHA:2306Malformation syndromeAutosomal recessive, X-linked recessiveInfancy, Neonatal
Фенотипы (HPO)30
Очень частый (80–99%)1
HP:0008551Microtia
Частый (30–79%)26
HP:0000023Inguinal hernia
HP:0000175Cleft palate
HP:0000238Hydrocephalus
HP:0000252Microcephaly
HP:0000347Micrognathia
HP:0000384Preauricular skin tag
HP:0000413Atresia of the external auditory canal
HP:0000463Anteverted nares
HP:0000582Upslanted palpebral fissure
HP:0000932Abnormality of the posterior cranial fossa
HP:0001511Intrauterine growth retardation
HP:0001643Patent ductus arteriosus
HP:0001647Bicuspid aortic valve
HP:0001650Aortic valve stenosis
HP:0001710Conotruncal defect
HP:0001713Abnormal cardiac ventricle morphology
HP:0002020Gastroesophageal reflux
HP:0005120Abnormal cardiac atrium morphology
HP:0005301Persistent left superior vena cava
HP:0008619Bilateral sensorineural hearing impairment
HP:0008774Aplasia/Hypoplasia of the inner ear
HP:0008897Postnatal growth retardation
HP:0011342Mild global developmental delay
HP:0011718Abnormality of the pulmonary veins
HP:0011968Feeding difficulties
HP:0012303Abnormal aortic arch morphology
Периодический (5–29%)1
HP:0009892Anotia
Исключён (0%)2
HP:0001888Lymphopenia
HP:0002901Hypocalcemia
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 6 | 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)