SIX2-related frontonasal dysplasia
ORPHA:488437Malformation syndromeAutosomal dominantNeonatal
Ассоциированные гены1
Фенотипы (HPO)22
Очень частый (80–99%)8
HP:0000348High forehead
HP:0000455Broad nasal tip
HP:0000508Ptosis
HP:0000537Epicanthus inversus
HP:0002007Frontal bossing
HP:0005280Depressed nasal bridge
HP:0005453Absent/hypoplastic paranasal sinuses
HP:0009119Aplasia/Hypoplasia of the frontal sinuses
Частый (30–79%)11
HP:0000256Macrocephaly
HP:0000260Wide anterior fontanel
HP:0000316Hypertelorism
HP:0000358Posteriorly rotated ears
HP:0001511Intrauterine growth retardation
HP:0001518Small for gestational age
HP:0002693Abnormality of the skull base
HP:0004322Short stature
HP:0005494Premature posterior fontanelle closure
HP:0010291Prominent palatine ridges
HP:0011330Metopic synostosis
Исключён (0%)3
HP:0000077Abnormality of the kidney
HP:0000820Abnormality of the thyroid gland
HP:0001263Global developmental delay
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 1 | Worldwide | Family(ies) |
| 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)