Deafness-epiphyseal dysplasia-short stature syndrome
ORPHA:3218Malformation syndromeNeonatal
Фенотипы (HPO)19
Очень частый (80–99%)3
HP:0000365Hearing impairment
HP:0004322Short stature
HP:0006499Abnormality of femoral epiphysis
Частый (30–79%)12
HP:0000023Inguinal hernia
HP:0000307Pointed chin
HP:0000325Triangular face
HP:0000470Short neck
HP:0000545Myopia
HP:0000579Nasolacrimal duct obstruction
HP:0001256Intellectual disability, mild
HP:0001263Global developmental delay
HP:0001537Umbilical hernia
HP:0003307Hyperlordosis
HP:0003312Abnormal form of the vertebral bodies
HP:0010306Short thorax
Периодический (5–29%)4
HP:0000541Retinal detachment
HP:0001156Brachydactyly
HP:0002007Frontal bossing
HP:0002167Abnormality of speech or vocalization
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)