Pfeiffer syndrome
ORPHA:710Malformation syndromeAutosomal dominantAntenatal, Neonatal
Фенотипы (HPO)22
Очень частый (80–99%)3
HP:0000508Ptosis
HP:0010669Hypoplasia of the zygomatic bone
HP:0011304Broad thumb
Частый (30–79%)8
HP:0000262Turricephaly
HP:0000316Hypertelorism
HP:0000348High forehead
HP:0000431Wide nasal bridge
HP:0001156Brachydactyly
HP:0004209Clinodactyly of the 5th finger
HP:0006101Finger syndactyly
HP:0009773Symphalangism affecting the phalanges of the hand
Периодический (5–29%)11
HP:0000194Open mouth
HP:0000218High palate
HP:0000303Mandibular prognathia
HP:0000322Short philtrum
HP:0000324Facial asymmetry
HP:0000470Short neck
HP:0001385Hip dysplasia
HP:0003307Hyperlordosis
HP:0004322Short stature
HP:0005048Synostosis of carpal bones
HP:0012368Flat face
Эпидемиология3
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Prevalence at birth | 1-9 / 100 000 | 1 | Europe | Value and class |
| Point prevalence | Unknown | — | Worldwide | Class only |
| Prevalence at birth | 1-9 / 1 000 000 | 0.3 | Australia | Value and class |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)