Non-syndromic bilambdoid and sagittal craniosynostosis
ORPHA:1516Malformation syndromeAutosomal recessiveNeonatal
Фенотипы (HPO)29
Очень частый (80–99%)7
HP:0000256Macrocephaly
HP:0000268Dolichocephaly
HP:0000316Hypertelorism
HP:0000369Low-set ears
HP:0001363Craniosynostosis
HP:0002007Frontal bossing
HP:0011344Severe global developmental delay
Частый (30–79%)13
HP:0000194Open mouth
HP:0000238Hydrocephalus
HP:0000322Short philtrum
HP:0000347Micrognathia
HP:0000402Stenosis of the external auditory canal
HP:0000430Underdeveloped nasal alae
HP:0000431Wide nasal bridge
HP:0000486Strabismus
HP:0000494Downslanted palpebral fissures
HP:0001537Umbilical hernia
HP:0004209Clinodactyly of the 5th finger
HP:0004322Short stature
HP:0009891Underdeveloped supraorbital ridges
Периодический (5–29%)9
HP:0000163Abnormal oral cavity morphology
HP:0000286Epicanthus
HP:0000324Facial asymmetry
HP:0000470Short neck
HP:0000639Nystagmus
HP:0000960Sacral dimple
HP:0001052Nevus flammeus
HP:0001643Patent ductus arteriosus
HP:0002079Hypoplasia of the corpus callosum
Эпидемиология4
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 14 | Worldwide | Case(s) |
| Prevalence at birth | <1 / 1 000 000 | — | Worldwide | Class only |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only |
| Prevalence at birth | <1 / 1 000 000 | 0.05 | Spain | Value and class |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)