Alopecia-contractures-dwarfism-intellectual disability syndrome
ORPHA:1005Malformation syndromeAutosomal recessiveAntenatal, Neonatal
Фенотипы (HPO)35
Очень частый (80–99%)8
HP:0000966Hypohidrosis
HP:0001249Intellectual disability
HP:0001387Joint stiffness
HP:0001596Alopecia
HP:0002808Kyphosis
HP:0003510Severe short stature
HP:0006887Intellectual disability, progressive
HP:0008070Sparse hair
Частый (30–79%)23
HP:0000358Posteriorly rotated ears
HP:0000252Microcephaly
HP:0000262Turricephaly
HP:0000316Hypertelorism
HP:0000400Macrotia
HP:0000448Prominent nose
HP:0000545Myopia
HP:0000582Upslanted palpebral fissure
HP:0000682Abnormality of dental enamel
HP:0000962Hyperkeratosis
HP:0001156Brachydactyly
HP:0001511Intrauterine growth retardation
HP:0003422Vertebral segmentation defect
HP:0004209Clinodactyly of the 5th finger
HP:0004422Biparietal narrowing
HP:0005048Synostosis of carpal bones
HP:0005819Short middle phalanx of finger
HP:0006101Finger syndactyly
HP:0008388Abnormal toenail morphology
HP:0008855Moderate postnatal growth retardation
HP:0009738Abnormality of the antihelix
HP:0009811Abnormality of the elbow
HP:0011039Abnormality of the helix
Периодический (5–29%)4
HP:0000924Abnormality of the skeletal system
HP:0002650Scoliosis
HP:0002827Hip dislocation
HP:0008064Ichthyosis
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 5 | 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)