Metaphyseal dysostosis-intellectual disability-conductive deafness syndrome
ORPHA:2502Malformation syndromeAutosomal recessiveInfancy, Neonatal
Фенотипы (HPO)26
Очень частый (80–99%)2
HP:0000405Conductive hearing impairment
HP:0001256Intellectual disability, mild
Частый (30–79%)22
HP:0001382Joint hypermobility
HP:0000403Recurrent otitis media
HP:0001169Broad palm
HP:0001769Broad foot
HP:0001773Short foot
HP:0001964Aplasia/Hypoplasia of metatarsal bones
HP:0002868Narrow iliac wings
HP:0002970Genu varum
HP:0002979Bowing of the legs
HP:0003015Flared metaphysis
HP:0003016Metaphyseal widening
HP:0003026Short long bone
HP:0003085Long fibula
HP:0004279Short palm
HP:0006009Broad phalanx
HP:0006413Broad tibial metaphyses
HP:0006417Broad femoral metaphyses
HP:0008110Equinovarus deformity
HP:0008873Disproportionate short-limb short stature
HP:0009760Antecubital pterygium
HP:0100255Metaphyseal dysplasia
HP:0100864Short femoral neck
Периодический (5–29%)2
HP:0000486Strabismus
HP:0000540Hypermetropia
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)