Isolated tibial hemimelia
ORPHA:93322Morphological anomalyAutosomal dominant, Autosomal recessive, Not applicableAntenatal, Infancy, Neonatal
Ассоциированные гены1
Фенотипы (HPO)33
Очень частый (80–99%)2
HP:0001762Talipes equinovarus
HP:0009556Absent tibia
Частый (30–79%)3
HP:0001171Split hand
HP:0004987Mesomelic leg shortening
HP:0006380Knee flexion contracture
Периодический (5–29%)19
HP:0001159Syndactyly
HP:0001385Hip dysplasia
HP:0001839Split foot
HP:0001840Metatarsus adductus
HP:0001849Foot oligodactyly
HP:0003974Absent radius
HP:0004059Radial club hand
HP:0005736Short tibia
HP:0005892Proximal tibial and fibular fusion
HP:0006426Rudimentary to absent tibiae
HP:0006460Increased laxity of ankles
HP:0008368Tarsal synostosis
HP:0010037Aplasia of the 2nd metacarpal
HP:0010043Aplasia of the 4th metacarpal
HP:0010442Polydactyly
HP:0010554Cutaneous finger syndactyly
HP:0012165Oligodactyly
HP:0012386Absent hallux
HP:0030032Partial absence of foot
Очень редкий (1–4%)9
HP:0000028Cryptorchidism
HP:0000047Hypospadias
HP:0000062Ambiguous genitalia
HP:0000175Cleft palate
HP:0000365Hearing impairment
HP:0002475Myelomeningocele
HP:0002673Coxa valga
HP:0002827Hip dislocation
HP:0002937Hemivertebrae
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Prevalence at birth | 1-9 / 1 000 000 | 0.1 | Europe | Value and class |
| Point prevalence | 1-9 / 1 000 000 | 0.1 | Europe | Value and class |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)