KBG syndrome
ORPHA:2332Malformation syndromeAutosomal dominantAdolescent, Childhood, Infancy, Neonatal
Ассоциированные гены1
Фенотипы (HPO)40
Частый (30–79%)35
HP:0000343Long philtrum
HP:0000400Macrotia
HP:0000426Prominent nasal bridge
HP:0000430Underdeveloped nasal alae
HP:0000463Anteverted nares
HP:0000465Webbed neck
HP:0000470Short neck
HP:0000486Strabismus
HP:0000506Telecanthus
HP:0000574Thick eyebrow
HP:0000637Long palpebral fissure
HP:0000664Synophrys
HP:0000677Oligodontia
HP:0000891Cervical ribs
HP:0000954Single transverse palmar crease
HP:0001263Global developmental delay
HP:0001566Widely-spaced maxillary central incisors
HP:0001572Macrodontia
HP:0002650Scoliosis
HP:0000028Cryptorchidism
HP:0000175Cleft palate
HP:0000219Thin upper lip vermilion
HP:0000252Microcephaly
HP:0000316Hypertelorism
HP:0000325Triangular face
HP:0002750Delayed skeletal maturation
HP:0002942Thoracic kyphosis
HP:0002948Vertebral fusion
HP:0004322Short stature
HP:0008513Bilateral conductive hearing impairment
HP:0010720Abnormal hair pattern
HP:0011842Abnormality of skeletal morphology
HP:0011968Feeding difficulties
HP:0012725Cutaneous syndactyly
HP:0040019Finger clinodactyly
Периодический (5–29%)5
HP:0000311Round face
HP:0001250Seizure
HP:0002353EEG abnormality
HP:0004474Persistent open anterior fontanelle
HP:0045017Congenital malformation of the left heart
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 164 | 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)