DOORS syndrome
ORPHA:79500Malformation syndromeAutosomal recessiveAntenatal, Infancy, Neonatal
Ассоциированные гены2
Фенотипы (HPO)89
Очень частый (80–99%)13
HP:0000212Gingival overgrowth
HP:0000343Long philtrum
HP:0000431Wide nasal bridge
HP:0000463Anteverted nares
HP:0001167Abnormality of finger
HP:0001231Abnormal fingernail morphology
HP:0001263Global developmental delay
HP:0001780Abnormality of toe
HP:0001817Absent fingernail
HP:0002353EEG abnormality
HP:0008388Abnormal toenail morphology
HP:0012810Wide nasal base
HP:0100797Toenail dysplasia
Частый (30–79%)22
HP:0000179Thick lower lip vermilion
HP:0000194Open mouth
HP:0000219Thin upper lip vermilion
HP:0000280Coarse facial features
HP:0000286Epicanthus
HP:0000294Low anterior hairline
HP:0000316Hypertelorism
HP:0000369Low-set ears
HP:0000414Bulbous nose
HP:0000474Thickened nuchal skin fold
HP:0001265Hyporeflexia
HP:0001561Polyhydramnios
HP:0002033Poor suck
HP:0002069Bilateral tonic-clonic seizure
HP:0002384Focal impaired awareness seizure
HP:0002714Downturned corners of mouth
HP:0004209Clinodactyly of the 5th finger
HP:0008947Floppy infant
HP:0009237Short 5th finger
HP:0009882Short distal phalanx of finger
HP:0010347Aplasia/Hypoplasia of the phalanges of the 2nd toe
HP:0012402Increased urine alpha-ketoglutarate concentration
Периодический (5–29%)33
HP:0009830Peripheral neuropathy
HP:0011951Aspiration pneumonia
HP:0011968Feeding difficulties
HP:0030680Abnormal cardiovascular system morphology
HP:0031282Malalignment of the great toenail
HP:0031423Small cerebellar cortex
HP:0000079Abnormality of the urinary system
HP:0000121Nephrocalcinosis
HP:0000164Abnormality of the dentition
HP:0000175Cleft palate
HP:0000187Broad alveolar ridges
HP:0000189Narrow palate
HP:0000200Short lingual frenulum
HP:0000248Brachycephaly
HP:0000252Microcephaly
HP:0000269Prominent occiput
HP:0000455Broad nasal tip
HP:0000545Myopia
HP:0000648Optic atrophy
HP:0000675Macrodontia of permanent maxillary central incisor
HP:0000687Widely spaced teeth
HP:0000696Delayed eruption of permanent teeth
HP:0000729Autistic behavior
HP:0000851Congenital hypothyroidism
HP:0001199Triphalangeal thumb
HP:0001336Myoclonus
HP:0001488Bilateral ptosis
HP:0001719Double outlet right ventricle
HP:0002007Frontal bossing
HP:0002020Gastroesophageal reflux
HP:0002098Respiratory distress
HP:0004442Sagittal craniosynostosis
HP:0005306Capillary hemangioma
Очень редкий (1–4%)21
HP:0000062Ambiguous genitalia
HP:0000126Hydronephrosis
HP:0000218High palate
HP:0000413Atresia of the external auditory canal
HP:0000486Strabismus
HP:0000518Cataract
HP:000087811 pairs of ribs
HP:0001305Dandy-Walker malformation
HP:0001894Thrombocytosis
HP:0002126Polymicrogyria
HP:0002139Arrhinencephaly
HP:0002937Hemivertebrae
HP:0003298Spina bifida occulta
HP:0004626Lumbar scoliosis
HP:0006934Congenital nystagmus
HP:0008110Equinovarus deformity
HP:0008221Adrenal hyperplasia
HP:0010497Sirenomelia
HP:0011326Anterior plagiocephaly
HP:0011409Abnormality of placental membranes
HP:0012725Cutaneous syndactyly
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 50 | 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)