Ramos-Arroyo syndrome
ORPHA:1051Malformation syndromeAutosomal dominantInfancy, Neonatal
Фенотипы (HPO)46
Очень частый (80–99%)2
HP:0000309Abnormal midface morphology
HP:0012155Decreased corneal sensation
Частый (30–79%)21
HP:0000283Broad face
HP:0000316Hypertelorism
HP:0000491Keratitis
HP:0000579Nasolacrimal duct obstruction
HP:0000582Upslanted palpebral fissure
HP:0001249Intellectual disability
HP:0001525Severe failure to thrive
HP:0001643Patent ductus arteriosus
HP:0002007Frontal bossing
HP:0002194Delayed gross motor development
HP:0002251Aganglionic megacolon
HP:0003510Severe short stature
HP:0004325Decreased body weight
HP:0005280Depressed nasal bridge
HP:0007663Reduced visual acuity
HP:0007980Absent retinal pigment epithelium
HP:0008619Bilateral sensorineural hearing impairment
HP:0011120Concave nasal ridge
HP:0011220Prominent forehead
HP:0012332Abnormal autonomic nervous system physiology
HP:0030491Choriocapillaris atrophy
Периодический (5–29%)23
HP:0000160Narrow mouth
HP:0000217Xerostomia
HP:0000343Long philtrum
HP:0000452Choanal stenosis
HP:0000463Anteverted nares
HP:0000533Chorioretinal atrophy
HP:0000620Dacryocystitis
HP:0000670Carious teeth
HP:0000742Self-mutilation
HP:0001631Atrial septal defect
HP:0002098Respiratory distress
HP:0002209Sparse scalp hair
HP:0004411Deviated nasal septum
HP:0006979Sleep-wake cycle disturbance
HP:0008872Feeding difficulties in infancy
HP:0009890High anterior hairline
HP:0010298Smooth tongue
HP:0010782Shoulder dimple
HP:0011451Congenital microcephaly
HP:0012450Chronic constipation
HP:0012537Food intolerance
HP:0012804Corneal ulceration
HP:0045025Narrow palpebral fissure
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 6 | 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)