Cohen syndrome
ORPHA:193Malformation syndromeAutosomal recessiveAntenatal, Infancy, Neonatal
Ассоциированные гены1
Фенотипы (HPO)64
Очень частый (80–99%)29
HP:0000164Abnormality of the dentition
HP:0000194Open mouth
HP:0000212Gingival overgrowth
HP:0000252Microcephaly
HP:0000294Low anterior hairline
HP:0000322Short philtrum
HP:0000327Hypoplasia of the maxilla
HP:0000347Micrognathia
HP:0000426Prominent nasal bridge
HP:0000492Abnormal eyelid morphology
HP:0000494Downslanted palpebral fissures
HP:0000499Abnormal eyelash morphology
HP:0000527Long eyelashes
HP:0000545Myopia
HP:0000574Thick eyebrow
HP:0001135Chorioretinal dystrophy
HP:0001166Arachnodactyly
HP:0001182Tapered finger
HP:0001249Intellectual disability
HP:0001252Hypotonia
HP:0001263Global developmental delay
HP:0001852Sandal gap
HP:0001875Decreased total neutrophil count
HP:0002167Abnormality of speech or vocalization
HP:0002705High, narrow palate
HP:0009804Tooth agenesis
HP:0010295Aplasia/Hypoplasia of the tongue
HP:0010669Hypoplasia of the zygomatic bone
HP:0011308Slender toe
Частый (30–79%)18
HP:0001382Joint hypermobility
HP:0000823Delayed puberty
HP:0001000Abnormality of skin pigmentation
HP:0001511Intrauterine growth retardation
HP:0001513Obesity
HP:0001531Failure to thrive in infancy
HP:0001558Decreased fetal movement
HP:0001572Macrodontia
HP:0001612Weak cry
HP:0002857Genu valgum
HP:0002967Cubitus valgus
HP:0004209Clinodactyly of the 5th finger
HP:0004283Narrow palm
HP:0004322Short stature
HP:0006101Finger syndactyly
HP:0008872Feeding difficulties in infancy
HP:0100874Thick hair
HP:0200046Cat cry
Периодический (5–29%)17
HP:0000028Cryptorchidism
HP:0000384Preauricular skin tag
HP:0000407Sensorineural hearing impairment
HP:0000486Strabismus
HP:0000568Microphthalmia
HP:0000612Iris coloboma
HP:0000639Nystagmus
HP:0000648Optic atrophy
HP:0000767Pectus excavatum
HP:0001250Seizure
HP:0001629Ventricular septal defect
HP:0001634Mitral valve prolapse
HP:0002650Scoliosis
HP:0002808Kyphosis
HP:0003272Abnormality of the hip bone
HP:0007703Abnormality of retinal pigmentation
HP:0009906Aplasia/Hypoplasia of the earlobes
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 200 | Worldwide | Case(s) |
| Point prevalence | Unknown | — | Worldwide | Class only |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)