Autosomal dominant Kenny-Caffey syndrome
ORPHA:93325Etiological subtypeAutosomal dominantChildhood
Ассоциированные гены1
Фенотипы (HPO)30
Очень частый (80–99%)4
HP:0000270Delayed cranial suture closure
HP:0004322Short stature
HP:0005791Cortical thickening of long bone diaphyses
HP:0100254Stenosis of the medullary cavity of the long bones
Частый (30–79%)23
HP:0000316Hypertelorism
HP:0000540Hypermetropia
HP:0000670Carious teeth
HP:0001085Papilledema
HP:0001510Growth delay
HP:0001511Intrauterine growth retardation
HP:0001903Anemia
HP:0002135Basal ganglia calcification
HP:0002199Hypocalcemic seizures
HP:0002750Delayed skeletal maturation
HP:0002905Hyperphosphatemia
HP:0003472Hypocalcemic tetany
HP:0004331Decreased skull ossification
HP:0005450Calvarial osteosclerosis
HP:0005490Postnatal macrocephaly
HP:0006470Thin long bone diaphyses
HP:0007633Bilateral microphthalmos
HP:0007862Retinal calcification
HP:0008198Congenital hypoparathyroidism
HP:0008734Decreased testicular size
HP:0008897Postnatal growth retardation
HP:0011220Prominent forehead
HP:0030346Abnormal circulating follicle-stimulating hormone level
Периодический (5–29%)3
HP:0000519Developmental cataract
HP:0001620Abnormally high-pitched voice
HP:0006335Persistence of primary teeth
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)