Fetal hydantoin syndrome
ORPHA:1912Malformation syndromeNot applicableAntenatal, Neonatal
Фенотипы (HPO)30
Очень частый (80–99%)6
HP:0000364Hearing abnormality
HP:0000377Abnormal pinna morphology
HP:0000457Depressed nasal ridge
HP:0003196Short nose
HP:0007477Abnormal dermatoglyphics
HP:0000358Posteriorly rotated ears
Частый (30–79%)20
HP:0000048Bifid scrotum
HP:0000154Wide mouth
HP:0000232Everted lower lip vermilion
HP:0000235Abnormality of the fontanelles or cranial sutures
HP:0000252Microcephaly
HP:0000286Epicanthus
HP:0000316Hypertelorism
HP:0000474Thickened nuchal skin fold
HP:0000486Strabismus
HP:0000508Ptosis
HP:0001199Triphalangeal thumb
HP:0001263Global developmental delay
HP:0001511Intrauterine growth retardation
HP:0001804Hypoplastic fingernail
HP:0002162Low posterior hairline
HP:0002208Coarse hair
HP:0004322Short stature
HP:0006610Wide intermamillary distance
HP:0009882Short distal phalanx of finger
HP:0100790Hernia
Периодический (5–29%)4
HP:0000028Cryptorchidism
HP:0000175Cleft palate
HP:0001626Abnormality of the cardiovascular system
HP:0002664Neoplasm
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)