Trigonocephaly-short stature-developmental delay syndrome
ORPHA:3369Malformation syndromeUnknownNo data available
Фенотипы (HPO)23
Очень частый (80–99%)3
HP:0000243Trigonocephaly
HP:0001263Global developmental delay
HP:0004322Short stature
Частый (30–79%)20
HP:0000023Inguinal hernia
HP:0000216Broad secondary alveolar ridge
HP:0000218High palate
HP:0000237Small anterior fontanelle
HP:0000286Epicanthus
HP:0000341Narrow forehead
HP:0000431Wide nasal bridge
HP:0000601Hypotelorism
HP:0001250Seizure
HP:0001518Small for gestational age
HP:0001629Ventricular septal defect
HP:0002342Intellectual disability, moderate
HP:0005484Secondary microcephaly
HP:0005494Premature posterior fontanelle closure
HP:0005495Metopic suture patent to nasal root
HP:0005769Fifth finger distal phalanx clinodactyly
HP:0008897Postnatal growth retardation
HP:0011324Multiple suture craniosynostosis
HP:0000358Posteriorly rotated ears
HP:0000444Convex nasal ridge
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 3 | 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)