Epiphyseal dysplasia-hearing loss-dysmorphism syndrome
ORPHA:1825Malformation syndromeNeonatal
Фенотипы (HPO)25
Очень частый (80–99%)18
HP:0000154Wide mouth
HP:0000286Epicanthus
HP:0000316Hypertelorism
HP:0000324Facial asymmetry
HP:0000407Sensorineural hearing impairment
HP:0000431Wide nasal bridge
HP:0000463Anteverted nares
HP:0000708Atypical behavior
HP:0001053Hypopigmented skin patches
HP:0001172Abnormal thumb morphology
HP:0001249Intellectual disability
HP:0001250Seizure
HP:0002750Delayed skeletal maturation
HP:0003019Abnormality of the wrist
HP:0004322Short stature
HP:0005280Depressed nasal bridge
HP:0007477Abnormal dermatoglyphics
HP:0009623Proximal placement of thumb
Частый (30–79%)6
HP:0000343Long philtrum
HP:0000508Ptosis
HP:0000823Delayed puberty
HP:0002002Deep philtrum
HP:0002650Scoliosis
HP:0006101Finger syndactyly
Периодический (5–29%)1
HP:0100542Abnormal localization of kidney
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)