Craniolenticulosutural dysplasia
ORPHA:50814Malformation syndromeAutosomal recessiveInfancy, Neonatal
Ассоциированные гены1
Фенотипы (HPO)34
Очень частый (80–99%)26
HP:0000154Wide mouth
HP:0000233Thin vermilion border
HP:0000239Large fontanelles
HP:0000316Hypertelorism
HP:0000319Smooth philtrum
HP:0000327Hypoplasia of the maxilla
HP:0000336Prominent supraorbital ridges
HP:0000343Long philtrum
HP:0000426Prominent nasal bridge
HP:0000445Wide nose
HP:0000670Carious teeth
HP:0000684Delayed eruption of teeth
HP:0000685Hypoplasia of teeth
HP:0000691Microdontia
HP:0002007Frontal bossing
HP:0002208Coarse hair
HP:0002299Brittle hair
HP:0002650Scoliosis
HP:0002652Skeletal dysplasia
HP:0004322Short stature
HP:0004331Decreased skull ossification
HP:0006480Premature loss of teeth
HP:0008031Posterior Y-sutural cataract
HP:0008070Sparse hair
HP:0008444Posterior wedging of vertebral bodies
HP:0008808High iliac wings
Частый (30–79%)5
HP:0000774Narrow chest
HP:0000953Hyperpigmentation of the skin
HP:0001000Abnormality of skin pigmentation
HP:0001763Pes planus
HP:0005306Capillary hemangioma
Периодический (5–29%)3
HP:0000218High palate
HP:0000750Delayed speech and language development
HP:0001382Joint hypermobility
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 28 | 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)