Neurofaciodigitorenal syndrome
ORPHA:2673Malformation syndromeAntenatal, Neonatal
Фенотипы (HPO)30
Очень частый (80–99%)16
HP:0000377Abnormal pinna morphology
HP:0000248Brachycephaly
HP:0000369Low-set ears
HP:0000413Atresia of the external auditory canal
HP:0000426Prominent nasal bridge
HP:0001199Triphalangeal thumb
HP:0001249Intellectual disability
HP:0001252Hypotonia
HP:0001511Intrauterine growth retardation
HP:0004322Short stature
HP:0005916Abnormal metacarpal morphology
HP:0009896Abnormality of the antitragus
HP:0009912Abnormal tragus morphology
HP:0010650Hypoplasia of the premaxilla
HP:0011220Prominent forehead
HP:0011830Abnormal oral mucosa morphology
Частый (30–79%)14
HP:0000028Cryptorchidism
HP:0000122Unilateral renal agenesis
HP:0000286Epicanthus
HP:0000288Abnormality of the philtrum
HP:0000303Mandibular prognathia
HP:0000316Hypertelorism
HP:0000494Downslanted palpebral fissures
HP:0000508Ptosis
HP:0000767Pectus excavatum
HP:0001131Corneal dystrophy
HP:0001357Plagiocephaly
HP:0009811Abnormality of the elbow
HP:0009832Abnormal distal phalanx morphology of finger
HP:0030680Abnormal cardiovascular system morphology
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)