Blepharonasofacial malformation syndrome
ORPHA:1252Malformation syndromeAutosomal dominant, X-linked dominantChildhood
Фенотипы (HPO)28
Очень частый (80–99%)12
HP:0000298Mask-like facies
HP:0000343Long philtrum
HP:0000430Underdeveloped nasal alae
HP:0000431Wide nasal bridge
HP:0000445Wide nose
HP:0000506Telecanthus
HP:0000581Blepharophimosis
HP:0000632Lacrimation abnormality
HP:0001072Thickened skin
HP:0001304Torsion dystonia
HP:0001582Redundant skin
HP:0006101Finger syndactyly
Частый (30–79%)10
HP:0001382Joint hypermobility
HP:0000377Abnormal pinna morphology
HP:0000175Cleft palate
HP:0000286Epicanthus
HP:0000365Hearing impairment
HP:0000499Abnormal eyelash morphology
HP:0001249Intellectual disability
HP:0001347Hyperreflexia
HP:0005338Sparse lateral eyebrow
HP:0100335Non-midline cleft of the upper lip
Периодический (5–29%)6
HP:0000023Inguinal hernia
HP:0000028Cryptorchidism
HP:0000648Optic atrophy
HP:0001608Abnormality of the voice
HP:0002162Low posterior hairline
HP:0009804Tooth agenesis
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 3 | Worldwide | Family(ies) |
| 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)