Acrofrontofacionasal dysostosis
ORPHA:1784Malformation syndromeAutosomal recessiveNeonatal
Фенотипы (HPO)29
Очень частый (80–99%)25
HP:0000175Cleft palate
HP:0000218High palate
HP:0000248Brachycephaly
HP:0000316Hypertelorism
HP:0000337Broad forehead
HP:0000455Broad nasal tip
HP:0000494Downslanted palpebral fissures
HP:0000508Ptosis
HP:0000625Eyelid coloboma
HP:0001053Hypopigmented skin patches
HP:0001088Brushfield spots
HP:0001156Brachydactyly
HP:0001798Anonychia
HP:0002120Cerebral cortical atrophy
HP:0002983Micromelia
HP:0004132Dimple on nasal tip
HP:0004322Short stature
HP:0005930Abnormality of epiphysis morphology
HP:0009882Short distal phalanx of finger
HP:0010864Intellectual disability, severe
HP:0011304Broad thumb
HP:0011800Midface retrusion
HP:0100335Non-midline cleft of the upper lip
HP:0100490Camptodactyly of finger
HP:0100840Aplasia/Hypoplasia of the eyebrow
Частый (30–79%)1
HP:0000232Everted lower lip vermilion
Периодический (5–29%)3
HP:0000047Hypospadias
HP:0000048Bifid scrotum
HP:0000119Abnormality of the genitourinary system
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 12 | 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)