Orofaciodigital syndrome type 5
ORPHA:2919Malformation syndromeAutosomal recessiveInfancy, Neonatal
Ассоциированные гены1
Фенотипы (HPO)27
Очень частый (80–99%)3
HP:0000161Median cleft lip
HP:0001162Postaxial hand polydactyly
HP:0001830Postaxial foot polydactyly
Частый (30–79%)6
HP:0000191Accessory oral frenulum
HP:0000288Abnormality of the philtrum
HP:0000316Hypertelorism
HP:0001249Intellectual disability
HP:0002007Frontal bossing
HP:0010297Bifid tongue
Периодический (5–29%)18
HP:0002251Aganglionic megacolon
HP:0002650Scoliosis
HP:0002705High, narrow palate
HP:0004736Crossed fused renal ectopia
HP:0005817Postaxial polysyndactyly of foot
HP:0006297Enamel hypoplasia
HP:0010441Ectopic accessory finger-like appendage
HP:0010800Absent cupid's bow
HP:0011069Supernumerary tooth
HP:0012738Agenesis of canine
HP:0100335Non-midline cleft of the upper lip
HP:0000185Cleft soft palate
HP:0000190Abnormal oral frenulum morphology
HP:0000193Bifid uvula
HP:0000252Microcephaly
HP:0000668Hypodontia
HP:0001274Agenesis of corpus callosum
HP:0001636Tetralogy of Fallot
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 12 | 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)