Craniosynostosis-hydrocephalus-Arnold-Chiari malformation type I-radioulnar synostosis syndrome
ORPHA:171839Malformation syndromeNeonatal
Фенотипы (HPO)41
Очень частый (80–99%)28
HP:0000028Cryptorchidism
HP:0000054Micropenis
HP:0000089Renal hypoplasia
HP:0000104Renal agenesis
HP:0000233Thin vermilion border
HP:0000238Hydrocephalus
HP:0000248Brachycephaly
HP:0000262Turricephaly
HP:0000272Malar flattening
HP:0000316Hypertelorism
HP:0000337Broad forehead
HP:0000343Long philtrum
HP:0000348High forehead
HP:0000369Low-set ears
HP:0000581Blepharophimosis
HP:0000768Pectus carinatum
HP:0001250Seizure
HP:0001363Craniosynostosis
HP:0002000Short columella
HP:0002308Chiari malformation
HP:0002342Intellectual disability, moderate
HP:0002974Radioulnar synostosis
HP:0003196Short nose
HP:0004279Short palm
HP:0005280Depressed nasal bridge
HP:0006487Bowing of the long bones
HP:0006610Wide intermamillary distance
HP:0008551Microtia
Частый (30–79%)13
HP:0000047Hypospadias
HP:0000239Large fontanelles
HP:0000347Micrognathia
HP:0000463Anteverted nares
HP:0001276Hypertonia
HP:0001285Spastic tetraparesis
HP:0001513Obesity
HP:0001537Umbilical hernia
HP:0001601Laryngomalacia
HP:0001643Patent ductus arteriosus
HP:0001770Toe syndactyly
HP:0002059Cerebral atrophy
HP:0007375Abnormality of the septum pellucidum
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 2 | 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)