Bohring-Opitz syndrome
ORPHA:97297Malformation syndromeAutosomal dominantAntenatal, Neonatal
Ассоциированные гены1
Фенотипы (HPO)65
Очень частый (80–99%)2
HP:0001052Nevus flammeus
HP:0012758Neurodevelopmental delay
Частый (30–79%)37
HP:0000243Trigonocephaly
HP:0000252Microcephaly
HP:0000293Full cheeks
HP:0000297Facial hypotonia
HP:0000520Proptosis
HP:0000589Coloboma
HP:0000648Optic atrophy
HP:0000664Synophrys
HP:0000998Hypertrichosis
HP:0001105Retinal atrophy
HP:0001274Agenesis of corpus callosum
HP:0001376Limitation of joint mobility
HP:0001511Intrauterine growth retardation
HP:0001525Severe failure to thrive
HP:0001662Bradycardia
HP:0002013Vomiting
HP:0002079Hypoplasia of the corpus callosum
HP:0002104Apnea
HP:0002187Intellectual disability, profound
HP:0002205Recurrent respiratory infections
HP:0002360Sleep abnormality
HP:0002540Inability to walk
HP:0002719Recurrent infections
HP:0002803Congenital contracture
HP:0002870Obstructive sleep apnea
HP:0003049Ulnar deviation of the wrist
HP:0004322Short stature
HP:0005487Prominent metopic ridge
HP:0006471Fixed elbow flexion
HP:0006863Severe expressive language delay
HP:0006895Lower limb hypertonia
HP:0008872Feeding difficulties in infancy
HP:0008936Axial hypotonia
HP:0010733Naevus flammeus of the eyelid
HP:0010864Intellectual disability, severe
HP:0012537Food intolerance
HP:0040082Happy demeanor
Периодический (5–29%)20
HP:0000358Posteriorly rotated ears
HP:0000016Urinary retention
HP:0000175Cleft palate
HP:0000278Retrognathia
HP:0000316Hypertelorism
HP:0000347Micrognathia
HP:0000431Wide nasal bridge
HP:0000463Anteverted nares
HP:0000767Pectus excavatum
HP:0001250Seizure
HP:0001305Dandy-Walker malformation
HP:0001373Joint dislocation
HP:0002119Ventriculomegaly
HP:0005280Depressed nasal bridge
HP:0006070Metacarpophalangeal joint contracture
HP:0010291Prominent palatine ridges
HP:0011003High myopia
HP:0012448Delayed myelination
HP:0012453Bilateral wrist flexion contracture
HP:0410030Cleft lip
Очень редкий (1–4%)6
HP:0002667Nephroblastoma
HP:0002885Medulloblastoma
HP:0001081Cholelithiasis
HP:0001640Cardiomegaly
HP:0001671Abnormal cardiac septum morphology
HP:0001734Annular pancreas
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 46 | 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)