Craniofaciofrontodigital syndrome
ORPHA:363705DiseaseUnknownNeonatal
Фенотипы (HPO)69
Очень частый (80–99%)4
HP:0000280Coarse facial features
HP:0000998Hypertrichosis
HP:0004540Congenital, generalized hypertrichosis
HP:0100874Thick hair
Частый (30–79%)23
HP:0000343Long philtrum
HP:0000969Edema
HP:0000973Cutis laxa
HP:0001015Prominent superficial veins
HP:0001250Seizure
HP:0001252Hypotonia
HP:0001263Global developmental delay
HP:0001382Joint hypermobility
HP:0001561Polyhydramnios
HP:0001622Premature birth
HP:0001640Cardiomegaly
HP:0001643Patent ductus arteriosus
HP:0001698Pericardial effusion
HP:0002020Gastroesophageal reflux
HP:0002076Migraine
HP:0002094Dyspnea
HP:0002098Respiratory distress
HP:0002315Headache
HP:0003546Exercise intolerance
HP:0005280Depressed nasal bridge
HP:0007517Palmoplantar cutis laxa
HP:0030890Hyperintensity of cerebral white matter on MRI
HP:0100678Premature skin wrinkling
Периодический (5–29%)32
HP:0000158Macroglossia
HP:0000286Epicanthus
HP:0000294Low anterior hairline
HP:0000316Hypertelorism
HP:0000520Proptosis
HP:0000768Pectus carinatum
HP:0001269Hemiparesis
HP:0001297Stroke
HP:0001328Specific learning disability
HP:0001520Large for gestational age
HP:0001635Congestive heart failure
HP:0001650Aortic valve stenosis
HP:0001653Mitral regurgitation
HP:0001654Abnormal heart valve morphology
HP:0002092Pulmonary arterial hypertension
HP:0002239Gastrointestinal hemorrhage
HP:0002579Gastrointestinal dysmotility
HP:0002650Scoliosis
HP:0002652Skeletal dysplasia
HP:0002708Prominent median palatal raphe
HP:0004322Short stature
HP:0004532Sacral hypertrichosis
HP:0004944Dilatation of the cerebral artery
HP:0005314Anomalous branches of internal carotid artery
HP:0006094Finger joint hypermobility
HP:0011220Prominent forehead
HP:0011675Arrhythmia
HP:0011726Persistent fetal circulation
HP:0012471Thick vermilion border
HP:0012568Lower eyelid edema
HP:0100659Abnormality of the cerebral vasculature
HP:0100790Hernia
Очень редкий (1–4%)10
HP:0000212Gingival overgrowth
HP:0000938Osteopenia
HP:0000939Osteoporosis
HP:0001176Large hands
HP:0001256Intellectual disability, mild
HP:0001629Ventricular septal defect
HP:0001631Atrial septal defect
HP:0001647Bicuspid aortic valve
HP:0001680Coarctation of aorta
HP:0002021Pyloric stenosis
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 4 | 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)