Short stature-wormian bones-dextrocardia syndrome
ORPHA:2863Malformation syndromeInfancy, Neonatal
Фенотипы (HPO)25
Очень частый (80–99%)25
HP:0000028Cryptorchidism
HP:0000187Broad alveolar ridges
HP:0000218High palate
HP:0000288Abnormality of the philtrum
HP:0000347Micrognathia
HP:0000369Low-set ears
HP:0000431Wide nasal bridge
HP:0000437Depressed nasal tip
HP:0000494Downslanted palpebral fissures
HP:0000527Long eyelashes
HP:0000684Delayed eruption of teeth
HP:0000830Anterior hypopituitarism
HP:0001156Brachydactyly
HP:0001257Spasticity
HP:0001643Patent ductus arteriosus
HP:0001651Dextrocardia
HP:0002023Anal atresia
HP:0002645Wormian bones
HP:0004322Short stature
HP:0007477Abnormal dermatoglyphics
HP:0008678Renal hypoplasia/aplasia
HP:0009804Tooth agenesis
HP:0012854Midshaft hypospadias
HP:0100490Camptodactyly of finger
HP:0100543Cognitive impairment
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)