Multiple synostoses syndrome
ORPHA:3237Malformation syndromeAutosomal dominantChildhood
Ассоциированные гены4
| Ген | Полное название | Тип связи | Тип гена | OMIM |
|---|---|---|---|---|
| GDF5 | growth differentiation factor 5 | Disease-causing germline mutation(s) (gain of function) in | gene with protein product | 601146 |
| NOG | noggin | Disease-causing germline mutation(s) in | gene with protein product | 602991 |
| FGF9 | fibroblast growth factor 9 | Disease-causing germline mutation(s) in | gene with protein product | 600921 |
| GDF6 | growth differentiation factor 6 | Disease-causing germline mutation(s) in | gene with protein product | 601147 |
Фенотипы (HPO)10
Очень частый (80–99%)5
HP:0000405Conductive hearing impairment
HP:0001156Brachydactyly
HP:0001387Joint stiffness
HP:0004279Short palm
HP:0009773Symphalangism affecting the phalanges of the hand
Частый (30–79%)3
HP:0007598Bilateral single transverse palmar creases
HP:0010579Cone-shaped epiphysis
HP:0011304Broad thumb
Периодический (5–29%)2
HP:0000324Facial asymmetry
HP:0001597Abnormality of the nail
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 30 | Worldwide | Family(ies) |
| 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)