Antley-Bixler syndrome
ORPHA:83Malformation syndromeAutosomal dominant, Autosomal recessiveAntenatal, Neonatal
Фенотипы (HPO)30
Очень частый (80–99%)16
HP:0000358Posteriorly rotated ears
HP:0000248Brachycephaly
HP:0000270Delayed cranial suture closure
HP:0000463Anteverted nares
HP:0000772Abnormal rib morphology
HP:0000774Narrow chest
HP:0001166Arachnodactyly
HP:0001387Joint stiffness
HP:0002007Frontal bossing
HP:0002980Femoral bowing
HP:0003070Elbow ankylosis
HP:0003196Short nose
HP:0003275Narrow pelvis bone
HP:0010669Hypoplasia of the zygomatic bone
HP:0030680Abnormal cardiovascular system morphology
HP:0100490Camptodactyly of finger
Частый (30–79%)4
HP:0000453Choanal atresia
HP:0000520Proptosis
HP:0001363Craniosynostosis
HP:0012210Abnormal renal morphology
Периодический (5–29%)10
HP:0000160Narrow mouth
HP:0000175Cleft palate
HP:0000262Turricephaly
HP:0000316Hypertelorism
HP:0000343Long philtrum
HP:0000486Strabismus
HP:0000494Downslanted palpebral fissures
HP:0001883Talipes
HP:0002757Recurrent fractures
HP:0009891Underdeveloped supraorbital ridges
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)