Craniometadiaphyseal dysplasia, wormian bone type
ORPHA:85184Malformation syndromeAutosomal recessiveNeonatal
Фенотипы (HPO)26
Очень частый (80–99%)26
HP:0000218High palate
HP:0000242Parietal bossing
HP:0000256Macrocephaly
HP:0000260Wide anterior fontanel
HP:0000272Malar flattening
HP:0000347Micrognathia
HP:0000494Downslanted palpebral fissures
HP:0000520Proptosis
HP:0000885Broad ribs
HP:0000938Osteopenia
HP:0000940Abnormal diaphysis morphology
HP:0001248Short tubular bones of the hand
HP:0001760Abnormal foot morphology
HP:0002212Curly hair
HP:0002645Wormian bones
HP:0002673Coxa valga
HP:0002703Abnormality of skull ossification
HP:0002753Thin bony cortex
HP:0005446Obtuse angle of mandible
HP:0006391Overtubulated long bones
HP:0006429Broad femoral neck
HP:0008438Vertebral arch anomaly
HP:0009911Abnormal temporal bone morphology
HP:0010539Thin calvarium
HP:0011001Increased bone mineral density
HP:0011220Prominent forehead
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 4 | 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)