Thumb deformity-alopecia-pigmentation anomaly syndrome
ORPHA:2251Malformation syndromeInfancy, Neonatal
Фенотипы (HPO)24
Очень частый (80–99%)5
HP:0000953Hyperpigmentation of the skin
HP:0001596Alopecia
HP:0003510Severe short stature
HP:0008070Sparse hair
HP:0009778Short thumb
Частый (30–79%)18
HP:0002381Aphasia
HP:0000232Everted lower lip vermilion
HP:0000411Protruding ear
HP:0000982Palmoplantar keratoderma
HP:0001025Urticaria
HP:0001053Hypopigmented skin patches
HP:0001199Triphalangeal thumb
HP:0001249Intellectual disability
HP:0001263Global developmental delay
HP:0001328Specific learning disability
HP:0002300Mutism
HP:0002381Aphasia
HP:0006482Abnormal dental morphology
HP:0008402Ridged fingernail
HP:0010529Echolalia
HP:0040036Onychogryposis of fingernail
HP:0100490Camptodactyly of finger
HP:0100798Fingernail dysplasia
Периодический (5–29%)1
HP:0006101Finger syndactyly
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 2 | Worldwide | Family(ies) |
| 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)