Oculoectodermal syndrome
ORPHA:3339Malformation syndromeNot applicableInfancy, Neonatal
Ассоциированные гены1
Фенотипы (HPO)36
Очень частый (80–99%)7
HP:0000502Abnormal conjunctiva morphology
HP:0001140Limbal dermoid
HP:0001274Agenesis of corpus callosum
HP:0001331Absent septum pellucidum
HP:0007440Generalized hyperpigmentation
HP:0008065Aplasia/Hypoplasia of the skin
HP:0012639Abnormal nervous system morphology
Частый (30–79%)23
HP:0000069Abnormality of the ureter
HP:0000256Macrocephaly
HP:0000286Epicanthus
HP:0000365Hearing impairment
HP:0000463Anteverted nares
HP:0000486Strabismus
HP:0000506Telecanthus
HP:0000520Proptosis
HP:0000581Blepharophimosis
HP:0000598Abnormality of the ear
HP:0001156Brachydactyly
HP:0001252Hypotonia
HP:0001508Failure to thrive
HP:0001510Growth delay
HP:0001561Polyhydramnios
HP:0001626Abnormality of the cardiovascular system
HP:0002251Aganglionic megacolon
HP:0003196Short nose
HP:0004279Short palm
HP:0008749Laryngeal hypoplasia
HP:0011968Feeding difficulties
HP:0012745Short palpebral fissure
HP:0030680Abnormal cardiovascular system morphology
Периодический (5–29%)6
HP:0000047Hypospadias
HP:0000625Eyelid coloboma
HP:0001999Abnormal facial shape
HP:0000014Abnormality of the bladder
HP:0000036Abnormality of the penis
HP:0000039Epispadias
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 19 | 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)