Femoral-facial syndrome
ORPHA:1988Malformation syndromeNot applicableAntenatal, Neonatal
Фенотипы (HPO)36
Очень частый (80–99%)3
HP:0000175Cleft palate
HP:0000347Micrognathia
HP:0003097Short femur
Частый (30–79%)18
HP:0000202Orofacial cleft
HP:0000219Thin upper lip vermilion
HP:0000343Long philtrum
HP:0000369Low-set ears
HP:0000582Upslanted palpebral fissure
HP:0001385Hip dysplasia
HP:0001762Talipes equinovarus
HP:0001841Preaxial foot polydactyly
HP:0002644Abnormality of pelvic girdle bone morphology
HP:0002812Coxa vara
HP:0002991Abnormal fibula morphology
HP:0003196Short nose
HP:0003422Vertebral segmentation defect
HP:0004322Short stature
HP:0005107Abnormal sacrum morphology
HP:0005772Aplasia/Hypoplasia of the tibia
HP:0008551Microtia
HP:0009800Maternal diabetes
Периодический (5–29%)15
HP:0000023Inguinal hernia
HP:0000028Cryptorchidism
HP:0000040Long penis
HP:0000113Polycystic kidney dysplasia
HP:0000486Strabismus
HP:0000772Abnormal rib morphology
HP:0000902Rib fusion
HP:0000912Sprengel anomaly
HP:0002119Ventriculomegaly
HP:0002650Scoliosis
HP:0002974Radioulnar synostosis
HP:0007370Aplasia/Hypoplasia of the corpus callosum
HP:0008678Renal hypoplasia/aplasia
HP:0030680Abnormal cardiovascular system morphology
HP:0100542Abnormal localization of kidney
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 68 | 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)