SHORT syndrome
ORPHA:3163Malformation syndromeAutosomal dominantNeonatal
Ассоциированные гены1
Фенотипы (HPO)37
Очень частый (80–99%)6
HP:0001382Joint hypermobility
HP:0000023Inguinal hernia
HP:0000407Sensorineural hearing impairment
HP:0000490Deeply set eye
HP:0003510Severe short stature
HP:0007676Hypoplasia of the iris
Частый (30–79%)17
HP:0000164Abnormality of the dentition
HP:0000271Abnormality of the face
HP:0000485Megalocornea
HP:0000501Glaucoma
HP:0000615Abnormal pupil morphology
HP:0000682Abnormality of dental enamel
HP:0000691Microdontia
HP:0000819Diabetes mellitus
HP:0000855Insulin resistance
HP:0001596Alopecia
HP:0001824Weight loss
HP:0002167Abnormality of speech or vocalization
HP:0004396Poor appetite
HP:0007392Excessive wrinkled skin
HP:0008070Sparse hair
HP:0009125Lipodystrophy
HP:0011800Midface retrusion
Периодический (5–29%)14
HP:0000272Malar flattening
HP:0000277Abnormality of the mandible
HP:0000316Hypertelorism
HP:0000325Triangular face
HP:0000336Prominent supraorbital ridges
HP:0000431Wide nasal bridge
HP:0000506Telecanthus
HP:0000593Abnormal anterior chamber morphology
HP:0000627Posterior embryotoxon
HP:0001156Brachydactyly
HP:0004279Short palm
HP:0007957Corneal opacity
HP:0010668Abnormal zygomatic bone morphology
HP:0011220Prominent forehead
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 32 | 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)