Pfeiffer syndrome type 2
ORPHA:93259Clinical subtypeAutosomal dominant, Not applicableAntenatal, Neonatal
Ассоциированные гены1
Фенотипы (HPO)35
Очень частый (80–99%)16
HP:0000218High palate
HP:0000272Malar flattening
HP:0000316Hypertelorism
HP:0000348High forehead
HP:0000520Proptosis
HP:0001376Limitation of joint mobility
HP:0002098Respiratory distress
HP:0002308Chiari malformation
HP:0002676Cloverleaf skull
HP:0003196Short nose
HP:0005280Depressed nasal bridge
HP:0008080Hallux varus
HP:0009603Deviation of the thumb
HP:0010059Broad hallux phalanx
HP:0010109Short hallux
HP:0011304Broad thumb
Частый (30–79%)14
HP:0000238Hydrocephalus
HP:0000369Low-set ears
HP:0000413Atresia of the external auditory canal
HP:0000453Choanal atresia
HP:0001249Intellectual disability
HP:0001250Seizure
HP:0001263Global developmental delay
HP:0001601Laryngomalacia
HP:0001770Toe syndactyly
HP:0001773Short foot
HP:0002410Aqueductal stenosis
HP:0002779Tracheomalacia
HP:0006101Finger syndactyly
HP:0200055Small hand
Периодический (5–29%)5
HP:0000175Cleft palate
HP:0000572Visual loss
HP:0002023Anal atresia
HP:0002516Increased intracranial pressure
HP:0002566Intestinal malrotation
Эпидемиология1
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Point prevalence | Unknown | — | Worldwide | Class only |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)