Mesomelic dysplasia, Nievergelt type
ORPHA:2633Malformation syndromeAutosomal dominantAntenatal, Neonatal
Фенотипы (HPO)26
Очень частый (80–99%)14
HP:0001376Limitation of joint mobility
HP:0002857Genu valgum
HP:0002974Radioulnar synostosis
HP:0002983Micromelia
HP:0002991Abnormal fibula morphology
HP:0002992Abnormality of tibia morphology
HP:0003027Mesomelia
HP:0003042Elbow dislocation
HP:0006501Aplasia/Hypoplasia of the radius
HP:0008368Tarsal synostosis
HP:0008845Mesomelic short stature
HP:0010781Skin dimple
HP:0040071Abnormal morphology of ulna
HP:0100490Camptodactyly of finger
Периодический (5–29%)12
HP:0000248Brachycephaly
HP:0000268Dolichocephaly
HP:0000486Strabismus
HP:0000960Sacral dimple
HP:0001249Intellectual disability
HP:0002650Scoliosis
HP:0002970Genu varum
HP:0003019Abnormality of the wrist
HP:0004209Clinodactyly of the 5th finger
HP:0006101Finger syndactyly
HP:0007598Bilateral single transverse palmar creases
HP:0100729Large face
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 19 | 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)