Hypertrichosis cubiti
ORPHA:2220Malformation syndromeAutosomal dominantChildhood
Фенотипы (HPO)27
Очень частый (80–99%)6
HP:0002230Generalized hirsutism
HP:0002983Micromelia
HP:0003510Severe short stature
HP:0008905Rhizomelia
HP:0009811Abnormality of the elbow
HP:0011121Abnormal skin morphology
Частый (30–79%)5
HP:0000311Round face
HP:0000324Facial asymmetry
HP:0002300Mutism
HP:0002381Aphasia
HP:0010529Echolalia
Периодический (5–29%)16
HP:0001382Joint hypermobility
HP:0000252Microcephaly
HP:0000271Abnormality of the face
HP:0000348High forehead
HP:0000426Prominent nasal bridge
HP:0000464Abnormality of the neck
HP:0000492Abnormal eyelid morphology
HP:0000494Downslanted palpebral fissures
HP:0000499Abnormal eyelash morphology
HP:0000508Ptosis
HP:0000574Thick eyebrow
HP:0000614Abnormal nasolacrimal system morphology
HP:0001249Intellectual disability
HP:0001263Global developmental delay
HP:0001328Specific learning disability
HP:0002750Delayed skeletal maturation
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 28 | 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)