Acrocraniofacial dysostosis
ORPHA:949Malformation syndromeAutosomal recessiveAntenatal, Neonatal
Фенотипы (HPO)44
Очень частый (80–99%)24
HP:0000358Posteriorly rotated ears
HP:0000175Cleft palate
HP:0000262Turricephaly
HP:0000322Short philtrum
HP:0000347Micrognathia
HP:0000377Abnormal pinna morphology
HP:0000426Prominent nasal bridge
HP:0000463Anteverted nares
HP:0000494Downslanted palpebral fissures
HP:0000506Telecanthus
HP:0000508Ptosis
HP:0000520Proptosis
HP:0001182Tapered finger
HP:0001199Triphalangeal thumb
HP:0001231Abnormal fingernail morphology
HP:0002869Flared iliac wings
HP:0003312Abnormal form of the vertebral bodies
HP:0004322Short stature
HP:0004467Preauricular pit
HP:0008388Abnormal toenail morphology
HP:0009882Short distal phalanx of finger
HP:0010034Short 1st metacarpal
HP:0010097Partial duplication of the distal phalanx of the hallux
HP:0011304Broad thumb
Частый (30–79%)20
HP:0000252Microcephaly
HP:0000316Hypertelorism
HP:0000340Sloping forehead
HP:0000405Conductive hearing impairment
HP:0000407Sensorineural hearing impairment
HP:0000453Choanal atresia
HP:0000545Myopia
HP:0000632Lacrimation abnormality
HP:0000767Pectus excavatum
HP:0001363Craniosynostosis
HP:0002673Coxa valga
HP:0002857Genu valgum
HP:0003272Abnormality of the hip bone
HP:0003298Spina bifida occulta
HP:0004452Abnormality of the middle ear ossicles
HP:0006288Advanced eruption of teeth
HP:0009465Ulnar deviation of finger
HP:0011453Abnormality of the incus
HP:0011454Abnormality of the malleus
HP:0030680Abnormal cardiovascular system morphology
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 2 | 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)