Craniofrontonasal dysplasia-Poland anomaly syndrome
ORPHA:1521Malformation syndromeUnknownNeonatal
Фенотипы (HPO)26
Очень частый (80–99%)6
HP:0000316Hypertelorism
HP:0000445Wide nose
HP:0000455Broad nasal tip
HP:0001363Craniosynostosis
HP:0004112Midline nasal groove
HP:0009116Aplasia/Hypoplasia involving bones of the skull
Частый (30–79%)20
HP:0000136Bifid uterus
HP:0000154Wide mouth
HP:0000200Short lingual frenulum
HP:0000218High palate
HP:0000465Webbed neck
HP:0000486Strabismus
HP:0001159Syndactyly
HP:0001231Abnormal fingernail morphology
HP:0001357Plagiocephaly
HP:0001464Aplasia/Hypoplasia involving the shoulder musculature
HP:0001540Diastasis recti
HP:0002162Low posterior hairline
HP:0002558Supernumerary nipple
HP:0006008Unilateral brachydactyly
HP:0006709Aplasia/Hypoplasia of the nipples
HP:0009930Asymmetry of the nares
HP:0011959Unilateral hypoplasia of pectoralis major muscle
HP:0012243Abnormal reproductive system morphology
HP:0030867Vertical orbital dystopia
HP:0045075Sparse eyebrow
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 2 | 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)