Ophthalmomandibulomelic dysplasia
ORPHA:2741Malformation syndromeNo data available
Фенотипы (HPO)19
Очень частый (80–99%)17
HP:0000618Blindness
HP:0001376Limitation of joint mobility
HP:0002974Radioulnar synostosis
HP:0002983Micromelia
HP:0003027Mesomelia
HP:0003042Elbow dislocation
HP:0004348Abnormality of bone mineral density
HP:0005048Synostosis of carpal bones
HP:0005446Obtuse angle of mandible
HP:0006055Ulnar deviated club hands
HP:0006439Radioulnar dislocation
HP:0006441Lateral humeral condyle aplasia
HP:0006501Aplasia/Hypoplasia of the radius
HP:0007957Corneal opacity
HP:0009773Symphalangism affecting the phalanges of the hand
HP:0012478Temporomandibular joint ankylosis
HP:0100490Camptodactyly of finger
Периодический (5–29%)2
HP:0000485Megalocornea
HP:0000501Glaucoma
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 3 | 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)