Mandibulofacial dysostosis-microcephaly syndrome
ORPHA:79113Malformation syndromeAutosomal dominantNeonatal
Ассоциированные гены1
Фенотипы (HPO)30
Очень частый (80–99%)20
HP:0000175Cleft palate
HP:0000243Trigonocephaly
HP:0000272Malar flattening
HP:0000327Hypoplasia of the maxilla
HP:0000347Micrognathia
HP:0000356Abnormality of the outer ear
HP:0000369Low-set ears
HP:0000384Preauricular skin tag
HP:0000582Upslanted palpebral fissure
HP:0000750Delayed speech and language development
HP:0001249Intellectual disability
HP:0003196Short nose
HP:0004322Short stature
HP:0005484Secondary microcephaly
HP:0008551Microtia
HP:0008609Morphological abnormality of the middle ear
HP:0009738Abnormality of the antihelix
HP:0011268Absent tragus
HP:0011272Underdeveloped tragus
HP:0011968Feeding difficulties
Частый (30–79%)7
HP:0000191Accessory oral frenulum
HP:0000286Epicanthus
HP:0000396Overfolded helix
HP:0000413Atresia of the external auditory canal
HP:0000506Telecanthus
HP:0001177Preaxial hand polydactyly
HP:0009748Large earlobe
Периодический (5–29%)3
HP:0000405Conductive hearing impairment
HP:0001250Seizure
HP:0001631Atrial septal defect
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 107 | 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)