Acrocardiofacial syndrome
ORPHA:2008Malformation syndromeAutosomal recessiveAntenatal, Neonatal
Фенотипы (HPO)37
Очень частый (80–99%)4
HP:0000369Low-set ears
HP:0001171Split hand
HP:0001249Intellectual disability
HP:0008872Feeding difficulties in infancy
Частый (30–79%)13
HP:0000028Cryptorchidism
HP:0000047Hypospadias
HP:0000175Cleft palate
HP:0000204Cleft upper lip
HP:0000316Hypertelorism
HP:0000348High forehead
HP:0000431Wide nasal bridge
HP:0000527Long eyelashes
HP:0001511Intrauterine growth retardation
HP:0001839Split foot
HP:0002120Cerebral cortical atrophy
HP:0005916Abnormal metacarpal morphology
HP:0008736Hypoplasia of penis
Периодический (5–29%)20
HP:0000520Proptosis
HP:0000836Hyperthyroidism
HP:0001250Seizure
HP:0001252Hypotonia
HP:0001276Hypertonia
HP:0001373Joint dislocation
HP:0001522Death in infancy
HP:0001629Ventricular septal defect
HP:0001631Atrial septal defect
HP:0001636Tetralogy of Fallot
HP:0001660Truncus arteriosus
HP:0001680Coarctation of aorta
HP:0001718Mitral stenosis
HP:0001770Toe syndactyly
HP:0001822Hallux valgus
HP:0001829Foot polydactyly
HP:0002023Anal atresia
HP:0006101Finger syndactyly
HP:0100490Camptodactyly of finger
HP:0100589Urogenital fistula
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 10 | 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)