Microcephaly-cervical spine fusion anomalies syndrome
ORPHA:2522Malformation syndromeAutosomal recessiveAntenatal, Neonatal
Фенотипы (HPO)26
Очень частый (80–99%)17
HP:0000252Microcephaly
HP:0000340Sloping forehead
HP:0000347Micrognathia
HP:0000369Low-set ears
HP:0000444Convex nasal ridge
HP:0000520Proptosis
HP:0000767Pectus excavatum
HP:0000772Abnormal rib morphology
HP:0001256Intellectual disability, mild
HP:0002176Spinal cord compression
HP:0002808Kyphosis
HP:0002949Fused cervical vertebrae
HP:0003307Hyperlordosis
HP:0004312Abnormality of reticulocytes
HP:0004322Short stature
HP:0010620Malar prominence
HP:0012371Midface prominence
Частый (30–79%)9
HP:0000047Hypospadias
HP:0000069Abnormality of the ureter
HP:0000470Short neck
HP:0000508Ptosis
HP:0000889Abnormality of the clavicle
HP:0001347Hyperreflexia
HP:0002167Abnormality of speech or vocalization
HP:0003272Abnormality of the hip bone
HP:0006482Abnormal dental morphology
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 2 | 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)