Orofaciodigital syndrome type 1
ORPHA:2750Malformation syndromeNot applicable, X-linked dominantAntenatal, Infancy, Neonatal
Ассоциированные гены1
Фенотипы (HPO)65
Очень частый (80–99%)9
HP:0000161Median cleft lip
HP:0000180Lobulated tongue
HP:0000187Broad alveolar ridges
HP:0000191Accessory oral frenulum
HP:0000218High palate
HP:0000271Abnormality of the face
HP:0000316Hypertelorism
HP:0000431Wide nasal bridge
HP:0002007Frontal bossing
Частый (30–79%)20
HP:0000164Abnormality of the dentition
HP:0000175Cleft palate
HP:0000199Tongue nodules
HP:0000324Facial asymmetry
HP:0000430Underdeveloped nasal alae
HP:0000494Downslanted palpebral fissures
HP:0000668Hypodontia
HP:0000929Abnormal skull morphology
HP:0001161Hand polydactyly
HP:0001249Intellectual disability
HP:0001250Seizure
HP:0001251Ataxia
HP:0001829Foot polydactyly
HP:0001831Short toe
HP:0004097Deviation of finger
HP:0004209Clinodactyly of the 5th finger
HP:0004349Reduced bone mineral density
HP:0006101Finger syndactyly
HP:0010579Cone-shaped epiphysis
HP:0011802Hamartoma of tongue
Периодический (5–29%)36
HP:0000003Multicystic kidney dysplasia
HP:0000083Renal insufficiency
HP:0000093Proteinuria
HP:0000126Hydronephrosis
HP:0000286Epicanthus
HP:0000347Micrognathia
HP:0000365Hearing impairment
HP:0000389Chronic otitis media
HP:0000453Choanal atresia
HP:0000506Telecanthus
HP:0000682Abnormality of dental enamel
HP:0000822Hypertension
HP:0000924Abnormality of the skeletal system
HP:0000958Dry skin
HP:0001056Milia
HP:0001156Brachydactyly
HP:0001162Postaxial hand polydactyly
HP:0001177Preaxial hand polydactyly
HP:0001274Agenesis of corpus callosum
HP:0001305Dandy-Walker malformation
HP:0001332Dystonia
HP:0001337Tremor
HP:0001596Alopecia
HP:0001732Abnormality of the pancreas
HP:0001737Pancreatic cysts
HP:0001738Exocrine pancreatic insufficiency
HP:0002208Coarse hair
HP:0002299Brittle hair
HP:0002617Dilatation
HP:0002910Elevated circulating hepatic transaminase concentration
HP:0008070Sparse hair
HP:0008368Tarsal synostosis
HP:0010669Hypoplasia of the zygomatic bone
HP:0010807Open bite
HP:0100267Lip pit
HP:0100612Odontogenic neoplasm
Эпидемиология3
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Prevalence at birth | 1-9 / 1 000 000 | 0.65 | France | Value and class |
| Prevalence at birth | 1-9 / 100 000 | 1.2 | Europe | Value and class |
| Point prevalence | Unknown | — | Worldwide | Class only |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)