Aminopterin/methotrexate embryofetopathy
ORPHA:1908Malformation syndromeNot applicableAntenatal, Neonatal
Фенотипы (HPO)33
Очень частый (80–99%)12
HP:0000238Hydrocephalus
HP:0000286Epicanthus
HP:0000303Mandibular prognathia
HP:0000316Hypertelorism
HP:0000431Wide nasal bridge
HP:0000520Proptosis
HP:0002323Anencephaly
HP:0002652Skeletal dysplasia
HP:0002983Micromelia
HP:0003027Mesomelia
HP:0004322Short stature
HP:0009891Underdeveloped supraorbital ridges
Частый (30–79%)9
HP:0000175Cleft palate
HP:0000252Microcephaly
HP:0000347Micrognathia
HP:0001511Intrauterine growth retardation
HP:0001883Talipes
HP:0002084Encephalocele
HP:0002435Meningocele
HP:0100335Non-midline cleft of the upper lip
HP:0000358Posteriorly rotated ears
Периодический (5–29%)12
HP:0001231Abnormal fingernail morphology
HP:0001360Holoprosencephaly
HP:0001629Ventricular septal defect
HP:0001636Tetralogy of Fallot
HP:0001696Situs inversus totalis
HP:0001792Small nail
HP:0004935Pulmonary artery atresia
HP:0006101Finger syndactyly
HP:0007360Aplasia/Hypoplasia of the cerebellum
HP:0007370Aplasia/Hypoplasia of the corpus callosum
HP:0009601Aplasia/Hypoplasia of the thumb
HP:0010301Spinal dysraphism
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 17 | Worldwide | Case(s) |
| 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)