Congenital labioscrotal agenesis-cerebellar malformation-corneal dystrophy-facial dysmorphism syndrome
ORPHA:495875Malformation syndromeAutosomal recessiveNeonatal
Ассоциированные гены1
Фенотипы (HPO)52
Очень частый (80–99%)11
HP:0000028Cryptorchidism
HP:0000280Coarse facial features
HP:0000294Low anterior hairline
HP:0000350Small forehead
HP:0000666Horizontal nystagmus
HP:0001131Corneal dystrophy
HP:0007957Corneal opacity
HP:0008707Absent scrotum
HP:0008729Absence of labia majora
HP:0011229Broad eyebrow
HP:0045075Sparse eyebrow
Частый (30–79%)23
HP:0000047Hypospadias
HP:0000343Long philtrum
HP:0000369Low-set ears
HP:0000463Anteverted nares
HP:0000478Abnormality of the eye
HP:0000486Strabismus
HP:0000505Visual impairment
HP:0000557Buphthalmos
HP:0000664Synophrys
HP:0001007Hirsutism
HP:0001097Keratoconjunctivitis sicca
HP:0001305Dandy-Walker malformation
HP:0001320Cerebellar vermis hypoplasia
HP:0002136Broad-based gait
HP:0002172Postural instability
HP:0002342Intellectual disability, moderate
HP:0002465Poor speech
HP:0005280Depressed nasal bridge
HP:0010864Intellectual disability, severe
HP:0011343Moderate global developmental delay
HP:0011344Severe global developmental delay
HP:0011825Tented philtrum
HP:0012110Hypoplasia of the pons
Периодический (5–29%)18
HP:0000064Hypoplastic labia minora
HP:0000107Renal cyst
HP:0000252Microcephaly
HP:0000347Micrognathia
HP:0000455Broad nasal tip
HP:0000470Short neck
HP:0000527Long eyelashes
HP:0000609Optic nerve hypoplasia
HP:0000718Aggressive behavior
HP:0001321Cerebellar hypoplasia
HP:0001350Slurred speech
HP:0001545Anteriorly placed anus
HP:0002000Short columella
HP:0002020Gastroesophageal reflux
HP:0006610Wide intermamillary distance
HP:0007018Attention deficit hyperactivity disorder
HP:0025405Visual fixation instability
HP:0040171Decreased serum testosterone concentration
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)