Townes-Brocks syndrome
ORPHA:857Malformation syndromeAutosomal dominantAll ages
Ассоциированные гены2
Фенотипы (HPO)66
Очень частый (80–99%)7
HP:0000377Abnormal pinna morphology
HP:0000143Rectovaginal fistula
HP:0000384Preauricular skin tag
HP:0001177Preaxial hand polydactyly
HP:0001199Triphalangeal thumb
HP:0002023Anal atresia
HP:0004792Rectoperineal fistula
Частый (30–79%)12
HP:0000028Cryptorchidism
HP:0000083Renal insufficiency
HP:0000365Hearing impairment
HP:0000396Overfolded helix
HP:0001482Subcutaneous nodule
HP:0001545Anteriorly placed anus
HP:0001760Abnormal foot morphology
HP:0001763Pes planus
HP:0001863Toe clinodactyly
HP:0002019Constipation
HP:0004209Clinodactyly of the 5th finger
HP:0008551Microtia
Периодический (5–29%)47
HP:0000047Hypospadias
HP:0000048Bifid scrotum
HP:0000076Vesicoureteral reflux
HP:0000086Ectopic kidney
HP:0000089Renal hypoplasia
HP:0000130Abnormality of the uterus
HP:0000142Abnormality of the vagina
HP:0000154Wide mouth
HP:0000324Facial asymmetry
HP:0000486Strabismus
HP:0000504Abnormality of vision
HP:0000518Cataract
HP:0000567Chorioretinal coloboma
HP:0000568Microphthalmia
HP:0000581Blepharophimosis
HP:0000612Iris coloboma
HP:0000772Abnormal rib morphology
HP:0000821Hypothyroidism
HP:0000823Delayed puberty
HP:0001140Limbal dermoid
HP:0001249Intellectual disability
HP:0001274Agenesis of corpus callosum
HP:0001508Failure to thrive
HP:0001631Atrial septal defect
HP:0001636Tetralogy of Fallot
HP:0001641Abnormal pulmonary valve morphology
HP:0001643Patent ductus arteriosus
HP:0001671Abnormal cardiac septum morphology
HP:0001770Toe syndactyly
HP:0002308Chiari malformation
HP:0002607Bowel incontinence
HP:0003468Abnormal vertebral morphology
HP:0004322Short stature
HP:0005562Multiple renal cysts
HP:0006824Cranial nerve paralysis
HP:0008736Hypoplasia of penis
HP:0009465Ulnar deviation of finger
HP:0009912Abnormal tragus morphology
HP:0009944Partial duplication of thumb phalanx
HP:0010059Broad hallux phalanx
HP:0010331Aplasia/Hypoplasia of the 3rd toe
HP:0010481Urethral valve
HP:0010760Absent toe
HP:0011304Broad thumb
HP:0012210Abnormal renal morphology
HP:0030680Abnormal cardiovascular system morphology
HP:0100559Lower limb asymmetry
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Prevalence at birth | 1-9 / 1 000 000 | 0.42 | Spain | Value and class |
| Point prevalence | 1-9 / 1 000 000 | — | Europe | Class only |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)