Fibulo-ulnar hypoplasia-renal anomalies syndrome
ORPHA:2256Malformation syndromeAntenatal, Neonatal
Фенотипы (HPO)22
Очень частый (80–99%)14
HP:0000316Hypertelorism
HP:0000347Micrognathia
HP:0000411Protruding ear
HP:0000431Wide nasal bridge
HP:0000494Downslanted palpebral fissures
HP:0001561Polyhydramnios
HP:0001622Premature birth
HP:0002007Frontal bossing
HP:0003022Hypoplasia of the ulna
HP:0003026Short long bone
HP:0005280Depressed nasal bridge
HP:0006101Finger syndactyly
HP:0006492Aplasia/Hypoplasia of the fibula
HP:0010242Aplasia of the proximal phalanges of the hand
Периодический (5–29%)8
HP:0000028Cryptorchidism
HP:0000049Shawl scrotum
HP:0000089Renal hypoplasia
HP:0001195Single umbilical artery
HP:0001629Ventricular septal defect
HP:0008736Hypoplasia of penis
HP:0030680Abnormal cardiovascular system morphology
HP:0100016Abnormality of mesentery 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)