Branchioskeletogenital syndrome
ORPHA:1299Malformation syndromeAutosomal recessive, X-linked dominantNeonatal
Ассоциированные гены1
Фенотипы (HPO)55
Очень частый (80–99%)37
HP:0000054Micropenis
HP:0000164Abnormality of the dentition
HP:0000176Submucous cleft hard palate
HP:0000193Bifid uvula
HP:0000248Brachycephaly
HP:0000252Microcephaly
HP:0000303Mandibular prognathia
HP:0000307Pointed chin
HP:0000309Abnormal midface morphology
HP:0000316Hypertelorism
HP:0000327Hypoplasia of the maxilla
HP:0000348High forehead
HP:0000455Broad nasal tip
HP:0000470Short neck
HP:0000486Strabismus
HP:0000506Telecanthus
HP:0000520Proptosis
HP:0000607Periorbital wrinkles
HP:0000664Synophrys
HP:0000670Carious teeth
HP:0000767Pectus excavatum
HP:0000808Penoscrotal hypospadias
HP:0002342Intellectual disability, moderate
HP:0002553Highly arched eyebrow
HP:0002679Abnormality of the sella turcica
HP:0002684Thickened calvaria
HP:0002714Downturned corners of mouth
HP:0005280Depressed nasal bridge
HP:0008516Abnormality of the vertebral spinous processes
HP:0009748Large earlobe
HP:0009907Attached earlobe
HP:0010299Abnormality of dentin
HP:0010724Advanced pneumatization of the mastoid process
HP:0010749Blepharochalasis
HP:0011072Rootless teeth
HP:0012368Flat face
HP:0100334Unilateral cleft palate
Частый (30–79%)8
HP:0000233Thin vermilion border
HP:0000322Short philtrum
HP:0000410Mixed hearing impairment
HP:0000494Downslanted palpebral fissures
HP:0001363Craniosynostosis
HP:0003319Abnormality of the cervical spine
HP:0003423Thoracolumbar kyphoscoliosis
HP:0006480Premature loss of teeth
Периодический (5–29%)3
HP:0000071Ureteral stenosis
HP:0000625Eyelid coloboma
HP:0001250Seizure
Очень редкий (1–4%)7
HP:0000042Absent external genitalia
HP:0001537Umbilical hernia
HP:0001545Anteriorly placed anus
HP:0002561Absent nipple
HP:0002836Bladder exstrophy
HP:0009814Upper limb peromelia
HP:0009818Amelia involving the lower limbs
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 7 | 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)