Isolated absence of upper arm and forearm with hand present
ORPHA:294975Morphological anomalyInfancy, Neonatal
Фенотипы (HPO)18
Очень частый (80–99%)1
HP:0009813Upper limb phocomelia
Периодический (5–29%)9
HP:0001627Abnormal heart morphology
HP:0003826Stillbirth
HP:0033127Abnormality of the musculoskeletal system
HP:0000765Abnormal thorax morphology
HP:0000925Abnormality of the vertebral column
HP:0001671Abnormal cardiac septum morphology
HP:0000271Abnormality of the face
HP:0000464Abnormality of the neck
HP:0000987Atypical scarring of skin
Очень редкий (1–4%)8
HP:0011603Congenital malformation of the great arteries
HP:0002088Abnormal lung morphology
HP:0000175Cleft palate
HP:0000104Renal agenesis
HP:0003272Abnormality of the hip bone
HP:0010442Polydactyly
HP:0001159Syndactyly
HP:0001518Small for gestational age
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Prevalence at birth | 1-9 / 1 000 000 | 0.62 | Worldwide | Value and class |
| Point prevalence | Unknown | — | Worldwide | Class only |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)