Renpenning syndrome
ORPHA:3242Malformation syndromeX-linked recessiveInfancy, Neonatal
Фенотипы (HPO)42
Очень частый (80–99%)5
HP:0000252Microcephaly
HP:0001249Intellectual disability
HP:0003202Skeletal muscle atrophy
HP:0003510Severe short stature
HP:0004326Cachexia
Частый (30–79%)18
HP:0000047Hypospadias
HP:0000272Malar flattening
HP:0000274Small face
HP:0000275Narrow face
HP:0000276Long face
HP:0000286Epicanthus
HP:0000303Mandibular prognathia
HP:0000322Short philtrum
HP:0000400Macrotia
HP:0000448Prominent nose
HP:0000582Upslanted palpebral fissure
HP:0000772Abnormal rib morphology
HP:0000912Sprengel anomaly
HP:0001510Growth delay
HP:0001596Alopecia
HP:0008734Decreased testicular size
HP:0045074Thin eyebrow
HP:0100830Round ear
Периодический (5–29%)19
HP:0000160Narrow mouth
HP:0000175Cleft palate
HP:0000407Sensorineural hearing impairment
HP:0000486Strabismus
HP:0000518Cataract
HP:0000612Iris coloboma
HP:0000767Pectus excavatum
HP:0000819Diabetes mellitus
HP:0001172Abnormal thumb morphology
HP:0001250Seizure
HP:0001387Joint stiffness
HP:0001572Macrodontia
HP:0002023Anal atresia
HP:0002705High, narrow palate
HP:0003328Abnormal hair laboratory examination
HP:0004209Clinodactyly of the 5th finger
HP:0008499High hypermetropia
HP:0010761Broad columella
HP:0030853Heterotaxy
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 64 | 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)