Harrod syndrome
ORPHA:2115Malformation syndromeInfancy, Neonatal
Фенотипы (HPO)26
Очень частый (80–99%)14
HP:0000160Narrow mouth
HP:0000218High palate
HP:0000252Microcephaly
HP:0000275Narrow face
HP:0000276Long face
HP:0000307Pointed chin
HP:0000411Protruding ear
HP:0000601Hypotelorism
HP:0000689Dental malocclusion
HP:0001166Arachnodactyly
HP:0001249Intellectual disability
HP:0001508Failure to thrive
HP:0001511Intrauterine growth retardation
HP:0003189Long nose
Частый (30–79%)12
HP:0000003Multicystic kidney dysplasia
HP:0000028Cryptorchidism
HP:0000047Hypospadias
HP:0000518Cataract
HP:0001053Hypopigmented skin patches
HP:0001250Seizure
HP:0002120Cerebral cortical atrophy
HP:0002644Abnormality of pelvic girdle bone morphology
HP:0002650Scoliosis
HP:0002808Kyphosis
HP:0003043Abnormality of the shoulder
HP:0001382Joint hypermobility
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 3 | 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)