Frontonasal dysplasia-bifid nose-upper limb anomalies syndrome
ORPHA:521308Malformation syndromeInfancy, Neonatal
Фенотипы (HPO)22
Частый (30–79%)14
HP:0000219Thin upper lip vermilion
HP:0000316Hypertelorism
HP:0000324Facial asymmetry
HP:0000430Underdeveloped nasal alae
HP:0000431Wide nasal bridge
HP:0000445Wide nose
HP:0000456Bifid nasal tip
HP:0001155Abnormality of the hand
HP:0001511Intrauterine growth retardation
HP:0002714Downturned corners of mouth
HP:0002817Abnormality of the upper limb
HP:0004209Clinodactyly of the 5th finger
HP:0007874Almond-shaped palpebral fissure
HP:0010939Abnormal nasal bone morphology
Периодический (5–29%)7
HP:0000453Choanal atresia
HP:0001274Agenesis of corpus callosum
HP:0001631Atrial septal defect
HP:0001763Pes planus
HP:0007330Frontoethmoidal encephalocele
HP:0008115Clinodactyly of the 3rd toe
HP:0012165Oligodactyly
Исключён (0%)1
HP:0001249Intellectual disability
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 11 | 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)