Brachydactyly type A7
ORPHA:93397Malformation syndromeInfancy, Neonatal
Фенотипы (HPO)17
Частый (30–79%)5
HP:0001822Hallux valgus
HP:0001852Sandal gap
HP:00046912-3 toe syndactyly
HP:0009843Aplasia/Hypoplasia of the middle phalanges of the hand
HP:0010109Short hallux
Периодический (5–29%)12
HP:0004209Clinodactyly of the 5th finger
HP:0008096Medially deviated second toe
HP:0009464Ulnar deviation of the 2nd finger
HP:0009467Radial deviation of the 2nd finger
HP:0009523Triangular epiphysis of the middle phalanx of the 2nd finger
HP:0009536Short 2nd finger
HP:0009576Absent middle phalanx of 2nd finger
HP:0009642Broad distal phalanx of the thumb
HP:0009700Finger symphalangism
HP:0010348Broad phalanges of the 2nd toe
HP:0011304Broad thumb
HP:0100394Short middle phalanx of the 5th toe
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 1 | 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)