Isolated ulnar hemimelia
ORPHA:93320Morphological anomalyInfancy, Neonatal
Фенотипы (HPO)40
Очень частый (80–99%)1
HP:0006495Aplasia/Hypoplasia of the ulna
Частый (30–79%)9
HP:0009380Finger aplasia
HP:0002758Osteoarthritis
HP:0002986Radial bowing
HP:0002996Limited elbow movement
HP:0003059Abnormality of the radioulnar joints
HP:0004059Radial club hand
HP:0005773Short forearm
HP:0006055Ulnar deviated club hands
HP:0040070Abnormal upper limb bone morphology
Периодический (5–29%)30
HP:0000882Hypoplastic scapulae
HP:0001377Limited elbow extension
HP:0002650Scoliosis
HP:0002987Elbow flexion contracture
HP:0003041Humeroradial synostosis
HP:0003083Dislocated radial head
HP:0003316Butterfly vertebrae
HP:0003887Abnormality of the humeral heads
HP:0003967Sclerotic forearm bones
HP:0005879Congenital finger flexion contractures
HP:0006376Limited elbow flexion
HP:0006467Limited shoulder movement
HP:0006633Glenoid fossa hypoplasia
HP:0009164Abnormal calcification of the carpal bones
HP:0009238Aplasia of the 5th finger
HP:0009281Aplasia of the 4th finger
HP:0009471Contracture of the proximal interphalangeal joint of the 3rd finger
HP:0009701Metacarpal synostosis
HP:0009702Carpal synostosis
HP:0009760Antecubital pterygium
HP:0009813Upper limb phocomelia
HP:0009959Duplication of phalanx of 3rd finger
HP:0010011Abnormality of the 3rd metacarpal
HP:0010048Aplasia of metacarpal bones
HP:0010176Curved toe phalanx
HP:0010301Spinal dysraphism
HP:0010331Aplasia/Hypoplasia of the 3rd toe
HP:0030835Elbow pain
HP:0100558Hemiatrophy of upper limb
HP:0100745Abnormality of the humeroulnar joint
Эпидемиология1
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Point prevalence | 1-9 / 1 000 000 | — | Europe | Class only |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)