Phocomelia, Schinzel type
ORPHA:2879Malformation syndromeAutosomal recessiveAntenatal, Infancy, Neonatal
Ассоциированные гены1
Фенотипы (HPO)31
Очень частый (80–99%)12
HP:0009380Finger aplasia
HP:0001849Foot oligodactyly
HP:0002164Nail dysplasia
HP:0002983Micromelia
HP:0002990Fibular aplasia
HP:0002992Abnormality of tibia morphology
HP:0003498Disproportionate short stature
HP:0003982Absent ulna
HP:0006487Bowing of the long bones
HP:0008517Aplasia/Hypoplasia of the sacrum
HP:0009103Aplasia/Hypoplasia involving the pelvis
HP:0100257Ectrodactyly
Частый (30–79%)6
HP:0000151Aplasia of the uterus
HP:0000347Micrognathia
HP:0000470Short neck
HP:0001511Intrauterine growth retardation
HP:0002984Hypoplasia of the radius
HP:0002986Radial bowing
Периодический (5–29%)13
HP:0000028Cryptorchidism
HP:0000175Cleft palate
HP:0000411Protruding ear
HP:0001362Skull defect
HP:0001789Hydrops fetalis
HP:0001883Talipes
HP:0002023Anal atresia
HP:0002435Meningocele
HP:0002575Tracheoesophageal fistula
HP:0002705High, narrow palate
HP:0003041Humeroradial synostosis
HP:0003196Short nose
HP:0008736Hypoplasia of penis
Эпидемиология1
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Point prevalence | Unknown | — | Worldwide | Class only |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)