Acromelic frontonasal dysplasia
ORPHA:1827Malformation syndromeAutosomal dominantAntenatal, Neonatal
Ассоциированные гены1
Фенотипы (HPO)37
Очень частый (80–99%)19
HP:0000239Large fontanelles
HP:0000248Brachycephaly
HP:0000316Hypertelorism
HP:0000455Broad nasal tip
HP:0000456Bifid nasal tip
HP:0000506Telecanthus
HP:0001249Intellectual disability
HP:0001263Global developmental delay
HP:0001274Agenesis of corpus callosum
HP:0001762Talipes equinovarus
HP:0001841Preaxial foot polydactyly
HP:0002056Abnormality of the glabella
HP:0002084Encephalocele
HP:0002435Meningocele
HP:0006866Midline central nervous system lipomas
HP:0008388Abnormal toenail morphology
HP:0009099Median cleft palate
HP:0009928Thick nasal alae
HP:0011803Bifid nose
Частый (30–79%)4
HP:0000161Median cleft lip
HP:0002119Ventriculomegaly
HP:0002190Choroid plexus cyst
HP:0040326Hypoplasia of the olfactory bulb
Периодический (5–29%)12
HP:0000028Cryptorchidism
HP:0000154Wide mouth
HP:0000508Ptosis
HP:0000545Myopia
HP:0001250Seizure
HP:0002690Large sella turcica
HP:0002781Upper airway obstruction
HP:0003065Patellar hypoplasia
HP:0005772Aplasia/Hypoplasia of the tibia
HP:0006951Retrocerebellar cyst
HP:0010627Anterior pituitary hypoplasia
HP:0040075Hypopituitarism
Очень редкий (1–4%)2
HP:0000501Glaucoma
HP:0025247Dermoid cyst
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 22 | 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)