Floating-Harbor syndrome
ORPHA:2044Malformation syndromeAutosomal dominantInfancy, Neonatal
Ассоциированные гены1
Фенотипы (HPO)79
Очень частый (80–99%)3
HP:0001518Small for gestational age
HP:0004322Short stature
HP:0011098Speech apraxia
Частый (30–79%)10
HP:0000154Wide mouth
HP:0000325Triangular face
HP:0000470Short neck
HP:0000486Strabismus
HP:0000750Delayed speech and language development
HP:0000914Shield chest
HP:0001256Intellectual disability, mild
HP:0001510Growth delay
HP:0002342Intellectual disability, moderate
HP:0002750Delayed skeletal maturation
Периодический (5–29%)55
HP:0000028Cryptorchidism
HP:0000047Hypospadias
HP:0000104Renal agenesis
HP:0000107Renal cyst
HP:0000121Nephrocalcinosis
HP:0000126Hydronephrosis
HP:0000322Short philtrum
HP:0000327Hypoplasia of the maxilla
HP:0000369Low-set ears
HP:0000405Conductive hearing impairment
HP:0000446Narrow nasal bridge
HP:0000455Broad nasal tip
HP:0000490Deeply set eye
HP:0000540Hypermetropia
HP:0000670Carious teeth
HP:0000677Oligodontia
HP:0000691Microdontia
HP:0000711Restlessness
HP:0000718Aggressive behavior
HP:0000722Compulsive behaviors
HP:0000736Short attention span
HP:0000739Anxiety
HP:0000826Precocious puberty
HP:000087811 pairs of ribs
HP:0000894Short clavicles
HP:0001156Brachydactyly
HP:0001250Seizure
HP:0001260Dysarthria
HP:0001344Absent speech
HP:0001385Hip dysplasia
HP:0001611Hypernasal speech
HP:0001620Abnormally high-pitched voice
HP:0002019Constipation
HP:0002020Gastroesophageal reflux
HP:0002136Broad-based gait
HP:0002751Kyphoscoliosis
HP:0003037Enlarged joints
HP:0003083Dislocated radial head
HP:0003189Long nose
HP:0003879Humeral pseudarthrosis
HP:0005743Avascular necrosis of the capital femoral epiphysis
HP:0006335Persistence of primary teeth
HP:0007018Attention deficit hyperactivity disorder
HP:0009765Low hanging columella
HP:0009778Short thumb
HP:0010049Short metacarpal
HP:0010946Dilatation of the renal pelvis
HP:0010957Congenital posterior urethral valve
HP:0011300Broad fingertip
HP:0012871Varicocele
HP:0025160Abnormal temper tantrums
HP:0030084Clinodactyly
HP:0030424Epididymal cyst
HP:0040288Nasogastric tube feeding
HP:0100710Impulsivity
Очень редкий (1–4%)11
HP:0000113Polycystic kidney dysplasia
HP:0000593Abnormal anterior chamber morphology
HP:0001631Atrial septal defect
HP:0001636Tetralogy of Fallot
HP:0001680Coarctation of aorta
HP:0002608Celiac disease
HP:0003774Stage 5 chronic kidney disease
HP:0005301Persistent left superior vena cava
HP:0008554Cochlear malformation
HP:0011599Mesocardia
HP:0012538Gluten intolerance
Эпидемиология1
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Point prevalence | Unknown | — | Worldwide | Class only |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)