Rhizomelic syndrome, Urbach type
ORPHA:3098Malformation syndromeNeonatal
Фенотипы (HPO)26
Очень частый (80–99%)23
HP:0000157Abnormality of the tongue
HP:0000252Microcephaly
HP:0000260Wide anterior fontanel
HP:0000347Micrognathia
HP:0000470Short neck
HP:0001061Acne
HP:0001156Brachydactyly
HP:0001177Preaxial hand polydactyly
HP:0001199Triphalangeal thumb
HP:0001376Limitation of joint mobility
HP:0001642Pulmonic stenosis
HP:0002815Abnormality of the knee
HP:0002827Hip dislocation
HP:0003312Abnormal form of the vertebral bodies
HP:0004322Short stature
HP:0005280Depressed nasal bridge
HP:0005930Abnormality of epiphysis morphology
HP:0008905Rhizomelia
HP:0009811Abnormality of the elbow
HP:0009882Short distal phalanx of finger
HP:0011362Abnormal hair quantity
HP:0100543Cognitive impairment
HP:0031095Abnormal humerus morphology
Частый (30–79%)3
HP:0000175Cleft palate
HP:0000218High palate
HP:0002808Kyphosis
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)