Orofaciodigital syndrome type 4
ORPHA:2753Malformation syndromeAutosomal recessiveAntenatal, Infancy, Neonatal
Ассоциированные гены1
Фенотипы (HPO)69
Очень частый (80–99%)42
HP:0000157Abnormality of the tongue
HP:0000161Median cleft lip
HP:0000168Abnormality of the gingiva
HP:0000190Abnormal oral frenulum morphology
HP:0000202Orofacial cleft
HP:0000252Microcephaly
HP:0000278Retrognathia
HP:0000316Hypertelorism
HP:0000347Micrognathia
HP:0000356Abnormality of the outer ear
HP:0000358Posteriorly rotated ears
HP:0000369Low-set ears
HP:0000405Conductive hearing impairment
HP:0000445Wide nose
HP:0000453Choanal atresia
HP:0000457Depressed nasal ridge
HP:0000496Abnormality of eye movement
HP:0001162Postaxial hand polydactyly
HP:0001177Preaxial hand polydactyly
HP:0001249Intellectual disability
HP:0001263Global developmental delay
HP:0001328Specific learning disability
HP:0001367Abnormal joint morphology
HP:0001373Joint dislocation
HP:0001511Intrauterine growth retardation
HP:0001562Oligohydramnios
HP:0001601Laryngomalacia
HP:0002205Recurrent respiratory infections
HP:0002970Genu varum
HP:0002983Micromelia
HP:0003196Short nose
HP:0003510Severe short stature
HP:0005772Aplasia/Hypoplasia of the tibia
HP:0006101Finger syndactyly
HP:0008734Decreased testicular size
HP:0009118Aplasia/Hypoplasia of the mandible
HP:0010285Oral synechia
HP:0010469Absent testis
HP:0010566Hamartoma
HP:0011267Microtia, third degree
HP:0011830Abnormal oral mucosa morphology
HP:0030868Monorchism
Частый (30–79%)13
HP:0000175Cleft palate
HP:0000176Submucous cleft hard palate
HP:0000193Bifid uvula
HP:0000520Proptosis
HP:0001171Split hand
HP:0001508Failure to thrive
HP:0001510Growth delay
HP:0002120Cerebral cortical atrophy
HP:0002705High, narrow palate
HP:0011968Feeding difficulties
HP:0012157Subcortical cerebral atrophy
HP:0100308Cerebral cortical hemiatrophy
HP:0100490Camptodactyly of finger
Периодический (5–29%)14
HP:0000104Renal agenesis
HP:0000143Rectovaginal fistula
HP:0000322Short philtrum
HP:0000598Abnormality of the ear
HP:0001800Hypoplastic toenails
HP:0002023Anal atresia
HP:0002089Pulmonary hypoplasia
HP:0004871Perineal fistula
HP:0005944Bilateral lung agenesis
HP:0008207Primary adrenal insufficiency
HP:0008678Renal hypoplasia/aplasia
HP:0011255Absent crus of helix
HP:0025023Rectal atresia
HP:0030680Abnormal cardiovascular system morphology
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 15 | 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)