Cenani-Lenz syndrome
ORPHA:3258Malformation syndromeAutosomal recessiveInfancy, Neonatal
Ассоциированные гены2
Фенотипы (HPO)41
Очень частый (80–99%)7
HP:0001817Absent fingernail
HP:0002007Frontal bossing
HP:0005048Synostosis of carpal bones
HP:0005916Abnormal metacarpal morphology
HP:0006101Finger syndactyly
HP:0012165Oligodactyly
HP:0100240Synostosis of joints
Частый (30–79%)8
HP:0000316Hypertelorism
HP:0000494Downslanted palpebral fissures
HP:0001770Toe syndactyly
HP:0001802Absent toenail
HP:0002974Radioulnar synostosis
HP:0002984Hypoplasia of the radius
HP:0003022Hypoplasia of the ulna
HP:0009778Short thumb
Периодический (5–29%)26
HP:0000272Malar flattening
HP:0000322Short philtrum
HP:0000365Hearing impairment
HP:0000411Protruding ear
HP:0000444Convex nasal ridge
HP:0000508Ptosis
HP:0000518Cataract
HP:0000520Proptosis
HP:0000639Nystagmus
HP:0000656Ectropion
HP:0000668Hypodontia
HP:0000682Abnormality of dental enamel
HP:0000772Abnormal rib morphology
HP:0000821Hypothyroidism
HP:0001601Laryngomalacia
HP:0001849Foot oligodactyly
HP:0002650Scoliosis
HP:0002705High, narrow palate
HP:0002827Hip dislocation
HP:0002983Micromelia
HP:0003042Elbow dislocation
HP:0003196Short nose
HP:0003312Abnormal form of the vertebral bodies
HP:0004736Crossed fused renal ectopia
HP:0007477Abnormal dermatoglyphics
HP:0008678Renal hypoplasia/aplasia
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 30 | 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)