Hypertelorism-hypospadias-polysyndactyly syndrome
ORPHA:2211Malformation syndromeAutosomal recessiveNeonatal
Фенотипы (HPO)35
Очень частый (80–99%)15
HP:0000036Abnormality of the penis
HP:0000039Epispadias
HP:0000047Hypospadias
HP:0000049Shawl scrotum
HP:0000239Large fontanelles
HP:0000248Brachycephaly
HP:0000270Delayed cranial suture closure
HP:0000316Hypertelorism
HP:0000358Posteriorly rotated ears
HP:0000369Low-set ears
HP:0000431Wide nasal bridge
HP:0000457Depressed nasal ridge
HP:0001177Preaxial hand polydactyly
HP:0005469Flat occiput
HP:0006101Finger syndactyly
Частый (30–79%)10
HP:0000048Bifid scrotum
HP:0000337Broad forehead
HP:0000343Long philtrum
HP:0000494Downslanted palpebral fissures
HP:0000501Glaucoma
HP:0000508Ptosis
HP:0000520Proptosis
HP:0000625Eyelid coloboma
HP:0010059Broad hallux phalanx
HP:0011304Broad thumb
Периодический (5–29%)10
HP:0001302Pachygyria
HP:0000960Sacral dimple
HP:0001302Pachygyria
HP:0001339Lissencephaly
HP:0002084Encephalocele
HP:0002126Polymicrogyria
HP:0002269Abnormality of neuronal migration
HP:0002536Abnormal cortical gyration
HP:0008388Abnormal toenail morphology
HP:0030769Exencephaly
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 3 | Worldwide | Family(ies) |
| 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)