Acrootoocular syndrome
ORPHA:2980Malformation syndromeAutosomal recessiveInfancy, Neonatal
Фенотипы (HPO)42
Частый (30–79%)41
HP:0000252Microcephaly
HP:0000286Epicanthus
HP:0000301Abnormality of facial musculature
HP:0000347Micrognathia
HP:0000363Abnormality of earlobe
HP:0000369Low-set ears
HP:0000405Conductive hearing impairment
HP:0000407Sensorineural hearing impairment
HP:0000413Atresia of the external auditory canal
HP:0000494Downslanted palpebral fissures
HP:0000538Pseudopapilledema
HP:0000581Blepharophimosis
HP:0000601Hypotelorism
HP:0000674Anodontia
HP:0000683Grayish enamel
HP:0000684Delayed eruption of teeth
HP:0000689Dental malocclusion
HP:0000767Pectus excavatum
HP:0000824Decreased response to growth hormone stimulation test
HP:0001245Small thenar eminence
HP:0001508Failure to thrive
HP:0001518Small for gestational age
HP:0001773Short foot
HP:0001831Short toe
HP:0001852Sandal gap
HP:0002705High, narrow palate
HP:0002750Delayed skeletal maturation
HP:0002751Kyphoscoliosis
HP:0004322Short stature
HP:0006143Abnormal finger flexion creases
HP:0006184Decreased palmar creases
HP:0007481Hyperpigmented nevi
HP:0009381Short finger
HP:0010049Short metacarpal
HP:0010487Small hypothenar eminence
HP:0010765Palmar hyperkeratosis
HP:0011069Supernumerary tooth
HP:0012428Prominent calcaneus
HP:0012725Cutaneous syndactyly
HP:0012810Wide nasal base
HP:0030842Choking episodes
Исключён (0%)1
HP:0001249Intellectual disability
Эпидемиология1
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Point prevalence | <1 / 1 000 000 | — | Europe | Class only |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)