Otopalatodigital syndrome type 2
ORPHA:90652Malformation syndromeX-linked dominantAntenatal, Neonatal
Ассоциированные гены1
Фенотипы (HPO)55
Очень частый (80–99%)21
HP:0000160Narrow mouth
HP:0000175Cleft palate
HP:0000239Large fontanelles
HP:0000272Malar flattening
HP:0000316Hypertelorism
HP:0000336Prominent supraorbital ridges
HP:0000337Broad forehead
HP:0000365Hearing impairment
HP:0000369Low-set ears
HP:0000377Abnormal pinna morphology
HP:0000494Downslanted palpebral fissures
HP:0000674Anodontia
HP:0000677Oligodontia
HP:0000774Narrow chest
HP:0002089Pulmonary hypoplasia
HP:0002652Skeletal dysplasia
HP:0003196Short nose
HP:0005280Depressed nasal bridge
HP:0006487Bowing of the long bones
HP:0009778Short thumb
HP:0010109Short hallux
Частый (30–79%)25
HP:0000047Hypospadias
HP:0000126Hydronephrosis
HP:0000162Glossoptosis
HP:0000201Pierre-Robin sequence
HP:0000238Hydrocephalus
HP:0000347Micrognathia
HP:0000772Abnormal rib morphology
HP:0001249Intellectual disability
HP:0001263Global developmental delay
HP:0001321Cerebellar hypoplasia
HP:0001508Failure to thrive
HP:0001539Omphalocele
HP:0001654Abnormal heart valve morphology
HP:0001671Abnormal cardiac septum morphology
HP:0002684Thickened calvaria
HP:0002738Hypoplastic frontal sinuses
HP:0002869Flared iliac wings
HP:0002990Fibular aplasia
HP:0003042Elbow dislocation
HP:0004279Short palm
HP:0005640Abnormal vertebral segmentation and fusion
HP:0005916Abnormal metacarpal morphology
HP:0006000Ureteral obstruction
HP:0011001Increased bone mineral density
HP:0100490Camptodactyly of finger
Периодический (5–29%)9
HP:0000518Cataract
HP:0001087Developmental glaucoma
HP:0002084Encephalocele
HP:0002475Myelomeningocele
HP:0002650Scoliosis
HP:0005048Synostosis of carpal bones
HP:0008368Tarsal synostosis
HP:0009702Carpal synostosis
HP:0100258Preaxial polydactyly
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 40 | 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)