Muenke syndrome
ORPHA:53271Malformation syndromeAutosomal dominantAntenatal, Neonatal
Ассоциированные гены1
Фенотипы (HPO)21
Частый (30–79%)15
HP:0000248Brachycephaly
HP:0000272Malar flattening
HP:0000316Hypertelorism
HP:0000407Sensorineural hearing impairment
HP:0000508Ptosis
HP:0000520Proptosis
HP:0001357Plagiocephaly
HP:0001773Short foot
HP:0002516Increased intracranial pressure
HP:0002705High, narrow palate
HP:0004279Short palm
HP:0004440Coronal craniosynostosis
HP:0008368Tarsal synostosis
HP:0009702Carpal synostosis
HP:0010579Cone-shaped epiphysis
Периодический (5–29%)6
HP:0000238Hydrocephalus
HP:0000256Macrocephaly
HP:0001034Hypermelanotic macule
HP:0001053Hypopigmented skin patches
HP:0001263Global developmental delay
HP:0005599Hypopigmentation of hair
Эпидемиология3
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Prevalence at birth | 1-9 / 100 000 | 3.33 | Worldwide | Value and class |
| Point prevalence | Unknown | — | Worldwide | Class only |
| Prevalence at birth | 1-9 / 100 000 | 2.3 | Australia | Value and class |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)