Blepharophimosis-intellectual disability syndrome, SBBYS type
ORPHA:3047Malformation syndromeAutosomal dominantAntenatal, Infancy, Neonatal
Ассоциированные гены1
Фенотипы (HPO)43
Очень частый (80–99%)18
HP:0000028Cryptorchidism
HP:0000269Prominent occiput
HP:0000278Retrognathia
HP:0000340Sloping forehead
HP:0000347Micrognathia
HP:0000358Posteriorly rotated ears
HP:0000369Low-set ears
HP:0000414Bulbous nose
HP:0000448Prominent nose
HP:0000581Blepharophimosis
HP:0000821Hypothyroidism
HP:0001249Intellectual disability
HP:0001252Hypotonia
HP:0001263Global developmental delay
HP:0001328Specific learning disability
HP:0003189Long nose
HP:0003510Severe short stature
HP:0012745Short palpebral fissure
Частый (30–79%)23
HP:0001382Joint hypermobility
HP:0000176Submucous cleft hard palate
HP:0000193Bifid uvula
HP:0000252Microcephaly
HP:0001250Seizure
HP:0001508Failure to thrive
HP:0001510Growth delay
HP:0001561Polyhydramnios
HP:0001629Ventricular septal defect
HP:0001631Atrial septal defect
HP:0001643Patent ductus arteriosus
HP:0002205Recurrent respiratory infections
HP:0004209Clinodactyly of the 5th finger
HP:0004426Abnormality of the cheek
HP:0005990Thyroid hypoplasia
HP:0006695Atrioventricular canal defect
HP:0007598Bilateral single transverse palmar creases
HP:0008188Thyroid dysgenesis
HP:0008191Thyroid agenesis
HP:0009738Abnormality of the antihelix
HP:0011968Feeding difficulties
HP:0100028Ectopic thyroid
HP:0100490Camptodactyly of finger
Периодический (5–29%)2
HP:0000614Abnormal nasolacrimal system morphology
HP:0100648Neoplasm of the tongue
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 122 | 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)